Coffin-Lowry Syndrome 2 RPS6KA3 XLD Coffin-Lowry Syndrome 2 RPS6KA3 XLR COFFIN-SIRIS SYNDROME COFFIN-SIRIS SYNDROME 1 COFFIN-SIRIS SYNDROME 10 COFFIN-SIRIS SYNDROME 11 COFFIN-SIRIS SYNDROME 2 COFFIN-SIRIS SYNDROME 3 COFFIN-SIRIS SYNDROME 4 COFFIN-SIRIS SYNDROME 5 COFFIN-SIRIS SYNDROME 6 COFFIN-SIRIS SYNDROME 7 COFFIN-SIRIS SYNDROME 8 COFFIN-SIRIS SYNDROME 9 COFS syndrome COG1-CDG COG2-CDG COG4-CDG COG5-CDG COG6-CGD COG7-CDG COG8-CDG Cognitive impairment with or without cerebellar ataxia Cognitive impairment-coarse facies-heart defects-obesity-pulmonary dysplasia ... Cohen syndrome Cohen-Gibson syndrome Cohesinopathy COL1A1-RELATED OSTEOGENESIS IMPERFECTA COL4A1-related familial vascular leukoencephalopathy COL6A1 associated myopathy COLCHICINE RESISTANCE Cold-induced sweating syndrome Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with ... Cole disease COLE-CARPENTER SYNDROME COLE-CARPENTER SYNDROME 1 COLE-CARPENTER SYNDROME 2 COLLAGEN TYPE II ALPHA-1 COLOBOMA CONGENITAL HEART DISEASE ICHTHYOSIFORM DERMATOSIS MENTALRETARDATION ... COLOBOMA OCULAR AUTOSOMAL DOMINANT COLOBOMA OCULAR AUTOSOMAL RECESSIVE Coloboma ocular with or without hearing impairment cleft lip/palate and/or ... Coloboma of choroid and retina Coloboma of eye lens Coloboma of eyelid Coloboma of iris Coloboma of macula Coloboma of optic disc COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS BILATERAL CONGENITAL INCLUDED Coloboma osteopetrosis microphthalmia macrocephaly albinism and deafness Colobomatous macrophthalmia with microcornea syndrome Colobomatous macrophthalmia-microcornea syndrome Colobomatous microphthalmia Colobomatous microphthalmia microcephaly intellectual disability and short ... Colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome COLORBLINDNESS PARTIAL DEUTAN SERIES COLORBLINDNESS PARTIAL PROTAN SERIES Colorectal Cancer COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 2 COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 4 Colorectal cancer hereditary nonpolyposis type 5 COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 6 COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 7 COLORECTAL CANCER HEREDITARY NONPOLYPOSIS TYPE 8 COLORECTAL CANCER SUSCEPTIBILITY TO 1 COLORECTAL CANCER SUSCEPTIBILITY TO 10 Colorectal cancer susceptibility to 12 COLORECTAL CANCER SUSCEPTIBILITY TO 3 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA Combined deficiency of factor V and factor VIII Combined immunodeficiency COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT ... Combined immunodeficiency due to CD27 deficiency Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD70 deficiency Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to IL21R deficiency Combined immunodeficiency due to ITK deficiency Combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to Moesin deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to TFRC deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with granulomatosis COMBINED IMMUNODEFICIENCY X-LINKED Combined immunodeficiency-enteropathy spectrum Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic aciduria Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 20 Combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 23 Combined oxidative phosphorylation defect type 24 Combined oxidative phosphorylation defect type 25 Combined oxidative phosphorylation defect type 26 Combined oxidative phosphorylation defect type 27 Combined oxidative phosphorylation defect type 29 Combined oxidative phosphorylation defect type 30 Combined oxidative phosphorylation defect type 39 Combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 9 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 Combined oxidative phosphorylation deficiency 16 Combined oxidative phosphorylation deficiency 17 Combined oxidative phosphorylation deficiency 18 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 Combined oxidative phosphorylation deficiency 20 Combined oxidative phosphorylation deficiency 21 Combined oxidative phosphorylation deficiency 22 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 Combined oxidative phosphorylation deficiency 24 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 Combined oxidative phosphorylation deficiency 28 Combined oxidative phosphorylation deficiency 29 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 Combined oxidative phosphorylation deficiency 37 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Combined oxidative phosphorylation deficiency 7 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 Combined pituitary hormone deficiencies genetic forms COMBINED SAPOSIN DEFICIENCY Common variable immunodeficiency COMPLEMENT COMPONENT 2 DEFICIENCY Complement component 3 deficiency COMPLEMENT COMPONENT 3 DEFICIENCY AUTOSOMAL RECESSIVE COMPLEMENT COMPONENT 4 PARTIAL DEFICIENCY OF COMPLEMENT COMPONENT 4A DEFICIENCY COMPLEMENT COMPONENT 4B DEFICIENCY COMPLEMENT COMPONENT 5 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY Complement component 7 deficiency COMPLEMENT COMPONENT 8 DEFICIENCY TYPE I COMPLEMENT COMPONENT 8 DEFICIENCY TYPE II COMPLEMENT COMPONENT 9 DEFICIENCY COMPLEMENT COMPONENT C1s DEFICIENCY COMPLEMENT FACTOR B DEFICIENCY COMPLEMENT FACTOR D DEFICIENCY COMPLEMENT FACTOR H DEFICIENCY COMPLEMENT FACTOR I DEFICIENCY COMPLEMENT HYPERACTIVATION ANGIOPATHIC THROMBOSIS AND PROTEIN-LOSING ENTEROPATHY Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy ... Complete androgen insensitivity syndrome Complete atrioventricular septal defect with ventricular hypoplasia Complete atrioventricular septal defect-tetralogy of Fallot Complete cryptophthalmia Complete hydatidiform mole Complex craniosynostosis Complex early-onset dystonia Complex Hereditary Spastic Paraplegia COMPLEX LETHAL OSTEOCHONDRODYSPLASIA CONE DYSTROPHY 3 CONE DYSTROPHY 4 Cone dystrophy with supernormal rod response Cone rod dystrophy CONE-ROD DYSTROPHY 10 CONE-ROD DYSTROPHY 11 CONE-ROD DYSTROPHY 12 CONE-ROD DYSTROPHY 13 CONE-ROD DYSTROPHY 15 Cone-rod dystrophy 16 Cone-rod dystrophy 18 CONE-ROD DYSTROPHY 19 CONE-ROD DYSTROPHY 2 CONE-ROD DYSTROPHY 20 CONE-ROD DYSTROPHY 21 CONE-ROD DYSTROPHY 3 CONE-ROD DYSTROPHY 5 CONE-ROD DYSTROPHY 6 CONE-ROD DYSTROPHY 7 CONE-ROD DYSTROPHY 9 CONE-ROD DYSTROPHY AND HEARING LOSS 1 CONE-ROD DYSTROPHY AND HEARING LOSS 2 Cone-rod dystrophy X-linked 1 CONE-ROD DYSTROPHY X-LINKED 3 CONE-ROD SYNAPTIC DISORDER CONGENITAL NONPROGRESSIVE CONE-ROD SYNAPTIC DISORDER SYNDROME CONGENITAL NONPROGRESSIVE Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase ... Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital alpha2 antiplasmin deficiency Congenital alveolar capillary dysplasia Congenital amegakaryocytic thrombocytopenia Congenital analbuminemia CONGENITAL AND JUVENILE CATARACT CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT CAKUT1 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT LOSS ... CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE Congenital atransferrinemia Congenital autosomal recessive small-platelet thrombocytopenia Congenital bilateral absence of vas deferens Congenital bile acid synthesis defect type 1 Congenital bile acid synthesis defect type 2 Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital Cataract Corneal Opacity and Developmental Glaucoma Congenital cataract microcornea with corneal opacity Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental ... Congenital cataract-severe neonatal hepatopathy-global developmental delay ... CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME CONGENITAL CATARACTS HEARING LOSS AND NEURODEGENERATION Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital Cerebellar Ataxia Congenital cerebellar ataxia due to RNU12 mutation Congenital chloride diarrhea Congenital chronic diarrhea with protein-losing enteropathy congenital clubfoot Congenital communicating hydrocephalus Congenital contractural arachnodactyly CONGENITAL CONTRACTURES OF THE LIMBS AND FACE HYPOTONIA AND DEVELOPMENTAL DELAY Congenital cornea plana Congenital deficiency in alpha-fetoprotein Congenital diaphragmatic hernia CONGENITAL DIARRHEAL DISORDERS CONGENITAL DISORDER OF DEGLYCOSYLATION Congenital Disorder of Glycosylation Congenital disorder of glycosylation type 1G congenital disorder of glycosylation type 1N Congenital disorder of glycosylation type 1O CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A Congenital disorder of glycosylation type 2C CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iaa CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ib CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic CONGENITAL DISORDER OF GLYCOSYLATION TYPE Icc CONGENITAL DISORDER OF GLYCOSYLATION TYPE Id CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ie CONGENITAL DISORDER OF GLYCOSYLATION TYPE If CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ih CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIa CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIe CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIg CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIh CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIi CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIj Congenital disorder of glycosylation type IIk CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIl CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIm CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIn CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIo CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIp CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIq CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIr CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIt CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ij CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ik CONGENITAL DISORDER OF GLYCOSYLATION TYPE Il CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im CONGENITAL DISORDER OF GLYCOSYLATION TYPE In CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ip CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iq CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ir CONGENITAL DISORDER OF GLYCOSYLATION TYPE Is CONGENITAL DISORDER OF GLYCOSYLATION TYPE It CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iu CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iw CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ix CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iy CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION Congenital disorder of glycosylation with defective fucosylation 1 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 Congenital Disorders of Glycosylation Congenital dyserythropoietic anemia type I Congenital dyserythropoietic anemia type II Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type IV Congenital enteropathy due to enteropeptidase deficiency Congenital erythropoietic porphyria Congenital factor II deficiency Congenital factor V deficiency Congenital factor VII deficiency Congenital factor X deficiency Congenital factor XI deficiency Congenital factor XII deficiency Congenital factor XIII deficiency Congenital fiber-type disproportion myopathy Congenital fibrosis of extraocular muscles Congenital generalized hypercontractile muscle stiffness syndrome Congenital generalized lipodystrophy CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 Congenital glaucoma CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA Congenital heart defects and skeletal malformations CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME CONGENITAL HEART DEFECTS and XX sex reversal CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES AND INTELLECTUAL DISORDER ... CONGENITAL HEART DEFECTS HAMARTOMAS OF TONGUE AND POLYSYNDACTYLY CONGENITAL HEART DEFECTS MULTIPLE TYPES 2 Congenital heart defects multiple types 4 CONGENITAL HEART DEFECTS MULTIPLE TYPES 5 CONGENITAL HEART DEFECTS MULTIPLE TYPES 6 CONGENITAL HEART DEFECTS MULTIPLE TYPES 7 Congenital heart disease CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER CONGENITAL HEART DISEASE NONSYNDROMIC 2 Congenital Hemangioma CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy type II Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital high-molecular-weight kininogen deficiency CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 CONGENITAL HYPOTONIA EPILEPSY DEVELOPMENTAL DELAY AND DIGITAL ANOMALIES congenital hypotonia epilepsy developmental delay digit abnormalities congenital ichthyosis Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome congenital inability to experience pain Congenital insensitivity to pain with anhidrosis Congenital insensitivity to pain with severe intellectual disability Congenital intrauterine infection-like syndrome Congenital intrinsic factor deficiency Congenital isolated ACTH deficiency Congenital lactase deficiency Congenital lactic acidosis Saguenay-Lac-Saint-Jean type Congenital lethal myopathy Compton-North type Congenital limbs-face contractures-hypotonia-developmental delay syndrome Congenital lipomatous overgrowth vascular malformations and epidermal nevi Congenital Lower Urinary Tract Obstruction Congenital lymphatic dysplasia with hydrops and/or lymphoedema Congenital megabladder Congenital membranous nephropathy due to fetomaternal anti-neutral ... Congenital mesoblastic nephroma Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy ... Congenital multicore myopathy with external ophthalmoplegia Congenital multiple cafe-au-lait macules-increased sister chromatid exchange ... Congenital Muscular Dystrophy Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy Fukuyama type Congenital muscular dystrophy Ullrich type Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with integrin alpha-7 deficiency Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint ... Congenital Myasthenic Syndrome Type 19 Congenital Myasthenic Syndrome with Episodic Apnea Congenital myasthenic syndromes with glycosylation defect Congenital myopathy Paradas type CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES Congenital myopathy with excess of thin filaments Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with myasthenic-like onset Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores Congenital myopathy with reduced type 2 muscle fibers Congenital nephrotic syndrome Finnish type Congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital non-bullous ichthyosiform erythroderma Congenital non-communicating hydrocephalus Congenital or early infantile CACH syndrome Congenital plasminogen activator inhibitor type 1 deficiency Congenital prekallikrein deficiency Congenital primary aphakia Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal ... Congenital ptosis Congenital reticular ichthyosiform erythroderma Congenital short bowel syndrome Congenital sialidosis type 2 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic delay syndrome ... Congenital sodium diarrhea Congenital stationary night blindness Congenital Stromal Corneal Dystrophy Congenital sucrase-isomaltase deficiency CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY Congenital thrombotic thrombocytopenic purpura Congenital tufting enteropathy CONGENITAL VARIANT OF RETT SYNDROME Congenital vascular tumours Congenital vertebral-cardiac-renal anomalies syndrome Congenital vertical talus bilateral Congenital vertical talus unilateral Congenitally uncorrected transposition of the great arteries Congenitally uncorrected transposition of the great arteries with cardiac ... Congenitally uncorrected transposition of the great arteries with coarctation Connective tissue disorder due to lysyl hydroxylase-3 deficiency Conotruncal heart malformations Constitutional megaloblastic anemia with severe neurologic disease Constitutional mismatch repair deficiency syndrome Continuous spikes and waves during sleep CONTRACTURAL ARACHNODACTYLY CONGENITAL CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A CONTRACTURES PTERYGIA AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B CONVULSIONS FAMILIAL INFANTILE WITH PAROXYSMAL CHOREOATHETOSIS COPROPORPHYRIA HEREDITARY Coralliform cataract CORNEA PLANA 2 AUTOSOMAL RECESSIVE CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS CORNEAL DYSTROPHY AVELLINO TYPE CORNEAL DYSTROPHY CONGENITAL STROMAL CORNEAL DYSTROPHY EPITHELIAL BASEMENT MEMBRANE CORNEAL DYSTROPHY FLECK CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 1 CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 3 Corneal dystrophy fuchs endothelial 4 CORNEAL DYSTROPHY FUCHS ENDOTHELIAL 6 Corneal dystrophy fuchs endothelial 8 CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 CORNEAL DYSTROPHY GELATINOUS DROP-LIKE CORNEAL DYSTROPHY GROENOUW TYPE I CORNEAL DYSTROPHY LATTICE TYPE I CORNEAL DYSTROPHY LATTICE TYPE IIIA CORNEAL DYSTROPHY MEESMANN 1 CORNEAL DYSTROPHY MEESMANN 2 CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 1 CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 2 CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 3 CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS 4 CORNEAL DYSTROPHY REIS-BUCKLERS TYPE CORNEAL DYSTROPHY THIEL-BEHNKE TYPE Corneal dystrophy-perceptive deafness syndrome Corneal endothelial dystrophy Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal ... Cornelia de Lange syndrome CORNELIA DE LANGE SYNDROME 1 CORNELIA DE LANGE SYNDROME 2 CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS CORNELIA DE LANGE SYNDROME 5 Cornelia de Lange Syndrome HDAC8 X-linked dominant CORNELIA DE LANGE SYNDROME TYPE 1 CORNELIA DE LANGE SYNDROME TYPE 2 CORNELIA DE LANGE SYNDROME TYPE 3 Cornelia de Lange-like syndrome CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR Coronal Craniosynostosis CORONARY ARTERY DISEASE AUTOSOMAL DOMINANT 1 Coronary Artery Disease Autosomal Dominant 2 Coronary Heart Disease Susceptibility To 1 Coronary Heart Disease Susceptibility To 6 CORONARY HEART DISEASE SUSCEPTIBILITY TO 7 CORPUS CALLOSUM AGENESIS OF WITH ABNORMAL GENITALIA CORPUS CALLOSUM AGENESIS OF WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA CORPUS CALLOSUM AGENESIS OF WITH MENTAL RETARDATION OCULAR COLOBOMA AND ... Corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Corpus callosum agenesis-neuronopathy syndrome CORPUS CALLOSUM PARTIAL AGENESIS OF X-LINKED Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 1 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 10 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 2 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 3 Cortical dysplasia complex with other brain malformations 4 Cortical dysplasia complex with other brain malformations 5 Cortical dysplasia complex with other brain malformations 6 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 7 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 8 CORTICAL DYSPLASIA COMPLEX WITH OTHER BRAIN MALFORMATIONS 9 Cortical dysplasia-focal epilepsy syndrome CORTICAL MALFORMATIONS OCCIPITAL CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CORTISONE REDUCTASE DEFICIENCY 1 Cortisone reductase deficiency 2 COSTELLO SYNDROME COUMARIN RESISTANCE COUSIN SYNDROME Cousin Syndrome; Craniofacial Dysmorphism Hypoplasia of Scapula and Pelvis and ... COWDEN SYNDROME COWDEN SYNDROME 1 COWDEN SYNDROME 4 COWDEN SYNDROME 5 COWDEN SYNDROME 6 COWDEN SYNDROME 7 COX15-related Leigh Syndrome COX16-related Developmental Disorder Coxopodopatellar syndrome Cranio-cervical dystonia with laryngeal and upper-limb involvement Craniodiaphyseal dysplasia CRANIODIAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT Cranioectodermal dysplasia CRANIOECTODERMAL DYSPLASIA 1 Cranioectodermal dysplasia 2 CRANIOECTODERMAL DYSPLASIA 3 Cranioectodermal dysplasia 4 CRANIOECTODERMAL DYSPLASIA TYPE 3 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME Craniofacial anomalies corpus callosum dysgenesis ptosis and developmental delay Craniofacial dysmorphism skeletal anomalies and mental retardation syndrome Craniofacial dysplasia-osteopenia syndrome Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual syndrome ... Craniofacial Neurological Cardiovascular and Skeletal Features Craniofacial with neurodevelopment disorders CRANIOFACIAL-DEAFNESS-HAND SYNDROME Craniofrontonasal dysplasia CRANIOFRONTONASAL SYNDROME CRANIOLENTICULOSUTURAL DYSPLASIA Craniometaphyseal dysplasia CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT CRANIOMETAPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE CRANIOOSTEOARTHROPATHY Craniopharyngioma Craniorachischisis CRANIOSYNOSTOSIS 1 CRANIOSYNOSTOSIS 2 Craniosynostosis 3 CRANIOSYNOSTOSIS 4 Craniosynostosis 5 susceptibility to CRANIOSYNOSTOSIS 6 Craniosynostosis 7 Craniosynostosis and dental anomalies Craniosynostosis Boston type CRANIOSYNOSTOSIS TYPE 2 Craniosynostosis-dental anomalies Craniosynostosis-microretrognathia-severe intellectual disability syndrome CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa CREATINE PHOSPHOKINASE ELEVATED SERUM Cree leukoencephalopathy CREUTZFELDT-JAKOB DISEASE Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 CRIGLER-NAJJAR SYNDROME TYPE I CRIGLER-NAJJAR SYNDROME TYPE II CRISPONI SYNDROME Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 Crouzon disease CROUZON SYNDROME CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS Crouzon syndrome-acanthosis nigricans syndrome CRX-Related Leber Congenital Amaurosis Leber congenital amaurosis 7 CRYOHYDROCYTOSIS Cryptogenic multifocal ulcerous stenosing enteritis Cryptophthalmos unilateral or bilateral isolated Cryptorchidism unilateral or bilateral CSNK2A1 syndrome CSNK2B-related developmental disorder monoallelic CTBP1-related developmental disorder monoallelic CTCF-related neurodevelopmental disorder CTNND2-related neurodevelopmental disorder CUL3-related developmental disorder monoallelic CULLER-JONES SYNDROME CURRARINO SYNDROME Curry-Jones Syndrome Cushing disease Cushing syndrome due to macronodular adrenal hyperplasia Cutaneous mastocytoma CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME FAMILIAL Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome CUTIS LAXA AUTOSOMAL DOMINANT 1 CUTIS LAXA AUTOSOMAL DOMINANT 2 Cutis laxa autosomal dominant 3 CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IA CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IB CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IC CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIA CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIB CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIC CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IID CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIA CUTIS LAXA AUTOSOMAL RECESSIVE TYPE IIIB Cutis laxa with severe pulmonary gastrointestinal and urinary anomalies Cutis marmorata telangiectatica congenita CYANOSIS TRANSIENT NEONATAL CYCLIC NEUTROPENIA CYLINDROMATOSIS FAMILIAL Cystathionine beta-synthase deficiency CYSTATHIONINURIA Cystic Fibrosis Cystic leukoencephalopathy without megalencephaly CYSTINOSIS ADULT NONNEPHROPATHIC CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS NEPHROPATHIC CYSTINOSIS NEPHROPATHIC TYPE CYSTINURIA Cystinuria type A Cystinuria type B CYTOCHROME P450 SUBFAMILY I POLYPEPTIDE 2 CYTOCHROME P450 SUBFAMILY IIA POLYPEPTIDE 6 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder CZECH DYSPLASIA D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 2 D-BIFUNCTIONAL PROTEIN DEFICIENCY D-GLYCERIC ACIDURIA D-LACTIC ACIDURIA WITH GOUT Danon disease DARIER DISEASE DARIER-WHITE DISEASE DDOST-CDG DDX23-related developmental disorder monoallelic DDX41-related hematologic malignancy predisposition syndrome De novo thrombotic microangiopathy after kidney transplantation De Sanctis-Cacchione syndrome Deafness aminoglycoside-induced DEAFNESS AND MYOPIA DEAFNESS AUTOSOMAL DOMINANT 1 WITH OR WITHOUT THROMBOCYTOPENIA DEAFNESS AUTOSOMAL DOMINANT 10 DEAFNESS AUTOSOMAL DOMINANT 11 DEAFNESS AUTOSOMAL DOMINANT 12 DEAFNESS AUTOSOMAL DOMINANT 13 DEAFNESS AUTOSOMAL DOMINANT 15 DEAFNESS AUTOSOMAL DOMINANT 17 DEAFNESS AUTOSOMAL DOMINANT 20 DEAFNESS AUTOSOMAL DOMINANT 22 DEAFNESS AUTOSOMAL DOMINANT 23 DEAFNESS AUTOSOMAL DOMINANT 25 DEAFNESS AUTOSOMAL DOMINANT 27 DEAFNESS AUTOSOMAL DOMINANT 28 DEAFNESS AUTOSOMAL DOMINANT 2A DEAFNESS AUTOSOMAL DOMINANT 2B DEAFNESS AUTOSOMAL DOMINANT 34 WITH OR WITHOUT INFLAMMATION DEAFNESS AUTOSOMAL DOMINANT 36 DEAFNESS AUTOSOMAL DOMINANT 37 DEAFNESS AUTOSOMAL DOMINANT 39 WITH DENTINOGENESIS IMPERFECTA 1 DEAFNESS AUTOSOMAL DOMINANT 3A DEAFNESS AUTOSOMAL DOMINANT 3B DEAFNESS AUTOSOMAL DOMINANT 40 DEAFNESS AUTOSOMAL DOMINANT 41 DEAFNESS AUTOSOMAL DOMINANT 44 DEAFNESS AUTOSOMAL DOMINANT 4A DEAFNESS AUTOSOMAL DOMINANT 4B Deafness autosomal dominant 5 Deafness autosomal dominant 50 DEAFNESS AUTOSOMAL DOMINANT 56 DEAFNESS AUTOSOMAL DOMINANT 6 DEAFNESS AUTOSOMAL DOMINANT 64 DEAFNESS AUTOSOMAL DOMINANT 65 DEAFNESS AUTOSOMAL DOMINANT 66 DEAFNESS AUTOSOMAL DOMINANT 67 Deafness autosomal dominant 68 DEAFNESS AUTOSOMAL DOMINANT 69 DEAFNESS AUTOSOMAL DOMINANT 7 DEAFNESS AUTOSOMAL DOMINANT 70 DEAFNESS AUTOSOMAL DOMINANT 71 DEAFNESS AUTOSOMAL DOMINANT 72 DEAFNESS AUTOSOMAL DOMINANT 73 DEAFNESS AUTOSOMAL DOMINANT 74 DEAFNESS AUTOSOMAL DOMINANT 75 DEAFNESS AUTOSOMAL DOMINANT 76 DEAFNESS AUTOSOMAL DOMINANT 77 DEAFNESS AUTOSOMAL DOMINANT 78 DEAFNESS AUTOSOMAL DOMINANT 79 DEAFNESS AUTOSOMAL DOMINANT 9 DEAFNESS AUTOSOMAL DOMINANT TYPE 13 deafness autosomal dominant type 2B DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 DEAFNESS AUTOSOMAL RECESSIVE DEAFNESS AUTOSOMAL RECESSIVE 100 Deafness autosomal recessive 101 Deafness autosomal recessive 102 DEAFNESS AUTOSOMAL RECESSIVE 103 Deafness autosomal recessive 104 DEAFNESS AUTOSOMAL RECESSIVE 106 DEAFNESS AUTOSOMAL RECESSIVE 107 DEAFNESS AUTOSOMAL RECESSIVE 108 DEAFNESS AUTOSOMAL RECESSIVE 109 DEAFNESS AUTOSOMAL RECESSIVE 110 DEAFNESS AUTOSOMAL RECESSIVE 111 DEAFNESS AUTOSOMAL RECESSIVE 112 DEAFNESS AUTOSOMAL RECESSIVE 113 DEAFNESS AUTOSOMAL RECESSIVE 114 DEAFNESS AUTOSOMAL RECESSIVE 115 DEAFNESS AUTOSOMAL RECESSIVE 116 DEAFNESS AUTOSOMAL RECESSIVE 12 DEAFNESS AUTOSOMAL RECESSIVE 15 DEAFNESS AUTOSOMAL RECESSIVE 16 DEAFNESS AUTOSOMAL RECESSIVE 18A DEAFNESS AUTOSOMAL RECESSIVE 18B DEAFNESS AUTOSOMAL RECESSIVE 1A DEAFNESS AUTOSOMAL RECESSIVE 1B DEAFNESS AUTOSOMAL RECESSIVE 2 DEAFNESS AUTOSOMAL RECESSIVE 21 DEAFNESS AUTOSOMAL RECESSIVE 22 DEAFNESS AUTOSOMAL RECESSIVE 23 Deafness autosomal recessive 24 DEAFNESS AUTOSOMAL RECESSIVE 25 DEAFNESS AUTOSOMAL RECESSIVE 26 DEAFNESS AUTOSOMAL RECESSIVE 26 MODIFIER OF DEAFNESS AUTOSOMAL RECESSIVE 28 DEAFNESS AUTOSOMAL RECESSIVE 29 DEAFNESS AUTOSOMAL RECESSIVE 3 DEAFNESS AUTOSOMAL RECESSIVE 30 DEAFNESS AUTOSOMAL RECESSIVE 31 DEAFNESS AUTOSOMAL RECESSIVE 32 WITH OR WITHOUT IMMOTILE SPERM DEAFNESS AUTOSOMAL RECESSIVE 35 DEAFNESS AUTOSOMAL RECESSIVE 36 WITH OR WITHOUT VESTIBULAR INVOLVEMENT DEAFNESS AUTOSOMAL RECESSIVE 37 DEAFNESS AUTOSOMAL RECESSIVE 39 DEAFNESS AUTOSOMAL RECESSIVE 4 WITH ENLARGED VESTIBULAR AQUEDUCT Deafness autosomal recessive 42 Deafness autosomal recessive 44 DEAFNESS AUTOSOMAL RECESSIVE 48 DEAFNESS AUTOSOMAL RECESSIVE 49 DEAFNESS AUTOSOMAL RECESSIVE 53 DEAFNESS AUTOSOMAL RECESSIVE 57 DEAFNESS AUTOSOMAL RECESSIVE 59 DEAFNESS AUTOSOMAL RECESSIVE 6 DEAFNESS AUTOSOMAL RECESSIVE 61 DEAFNESS AUTOSOMAL RECESSIVE 63 Deafness autosomal recessive 66 DEAFNESS AUTOSOMAL RECESSIVE 67 Deafness autosomal recessive 68 DEAFNESS AUTOSOMAL RECESSIVE 7 DEAFNESS AUTOSOMAL RECESSIVE 70 DEAFNESS AUTOSOMAL RECESSIVE 74 DEAFNESS AUTOSOMAL RECESSIVE 76 DEAFNESS AUTOSOMAL RECESSIVE 77 Deafness autosomal recessive 79 Deafness autosomal recessive 8 DEAFNESS AUTOSOMAL RECESSIVE 84A DEAFNESS AUTOSOMAL RECESSIVE 84B DEAFNESS AUTOSOMAL RECESSIVE 86 DEAFNESS AUTOSOMAL RECESSIVE 88 DEAFNESS AUTOSOMAL RECESSIVE 89 DEAFNESS AUTOSOMAL RECESSIVE 9 Deafness autosomal recessive 91 DEAFNESS AUTOSOMAL RECESSIVE 93 DEAFNESS AUTOSOMAL RECESSIVE 94 DEAFNESS AUTOSOMAL RECESSIVE 97 DEAFNESS AUTOSOMAL RECESSIVE 98 DEAFNESS AUTOSOMAL RECESSIVE 99 deafness autosomal recessive type 12 deafness autosomal recessive type 2 DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 DEAFNESS CONGENITAL HEART DEFECTS AND POSTERIOR EMBRYOTOXON DEAFNESS CONGENITAL WITH INNER EAR AGENESIS MICROTIA AND MICRODONTIA DEAFNESS CONGENITAL WITH ONYCHODYSTROPHY AUTOSOMAL DOMINANT Deafness Dystonia and Central Hypomyelination with Disorganization of the Golgi ... DEAFNESS DYSTONIA AND CEREBRAL HYPOMYELINATION Deafness nonsyndromic sensorineural mitochondrial DEAFNESS ONYCHODYSTROPHY OSTEODYSTROPHY MENTAL RETARDATION AND SEIZURES SYNDROME Deafness with Labyrinthine Aplasia Microtia and Microdontia DEAFNESS X-LINKED 1 DEAFNESS X-LINKED 2 DEAFNESS X-LINKED 4 DEAFNESS X-LINKED 5 WITH PERIPHERAL NEUROPATHY DEAFNESS X-LINKED 6 DEAFNESS X-LINKED 7 DEAFNESS X-LINKED TYPE 1 Deafness Y-linked 2 Deafness-enamel hypoplasia-nail defects syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-infertility syndrome Deafness-lymphedema-leukemia syndrome Dedifferentiated liposarcoma DEEAH SYNDROME Defect in Cholesterol Biosynthesis Defects in Neuronal Migration and Axon Guidance Deficiency in anterior pituitary function-variable immunodeficiency syndrome Dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia edema ... Dehydrated hereditary stomatocytosis 2 Dejerine-Sottas syndrome DELAYED SLEEP PHASE DISORDER SUSCEPTIBILITY TO Deletion 5q35 DELPIRE-MCNEILL SYNDROME Delta-beta thalassemia Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 DEMENTIA LEWY BODY DEND syndrome DENGUE VIRUS SUSCEPTIBILITY TO DENGUE FEVER SUSCEPTIBILITY TO INCLUDED Dense deposit disease Dent disease 1 DENT DISEASE 2 Dent disease type 1 Dent disease type 2 DENTAL ANOMALIES AND SHORT STATURE Dentatorubral pallidoluysian atrophy DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY Dentin dysplasia type I Dentin dysplasia type I with microdontia and misshapen teeth DENTIN DYSPLASIA TYPE II DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA SHIELDS TYPE II DENTINOGENESIS IMPERFECTA SHIELDS TYPE III Dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 3 DENYS-DRASH SYNDROME Dermatitis atopic 2 DERMATOFIBROSARCOMA PROTUBERANS DERMATOPATHIA PIGMENTOSA RETICULARIS Dermatosparaxis Ehlers-Danlos syndrome Desanto-shinawi syndrome DESBUQUOIS DYSPLASIA 1 DESBUQUOIS DYSPLASIA 2 Desbuquois syndrome Desmin-related myopathy with Mallory body-like inclusions Desminopathy DESMOID DISEASE HEREDITARY Desmoid tumor Desmoplastic small round cell tumor Desmoplastic/nodular medulloblastoma DESMOSTEROLOSIS Developmental and Epileptic Encephalopathy DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN ... DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and ... Developmental and expressive language delay Developmental and infantile epileptic encephalopathy Developmental and speech delay due to SOX5 deficiency Developmental and Speech Delay Postnatal Microcephaly and Dysmorphic Features Developmental delay and distinctive facial features DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES Developmental Delay Congenital Anomalies and Dysmorphic Features Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Developmental Delay Epilepsy Cerebellar Atrophy and Osteopenia Developmental delay happy demeanor distinctive facial features and congenital ... Developmental delay hypotonia and autistic features Developmental delay ID obesity and dysmorphic features Developmental delay macrocephaly and dysmorphic features Developmental delay with autism spectrum disorder and gait instability DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM DEVELOPMENTAL DELAY WITH SHORT STATURE DYSMORPHIC FACIAL FEATURESAND SPARSE HAIR DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ... Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Developmental Disorder with Microcephaly and Congenital Arthrogryposis Developmental Disorders with Diverse Phenotypes Developmental epileptic encephalopathy Developmental malformations-deafness-dystonia syndrome DHRS3 related craniosynostosis DIABETES INSIPIDUS NEPHROGENIC AUTOSOMAL Diabetes insipidus nephrogenic X-linked DIABETES INSIPIDUS NEUROHYPOPHYSEAL Diabetes Mellitus 6q24-Related Transient Neonatal DIABETES MELLITUS INSULIN-RESISTANT WITH ACANTHOSIS NIGRICANS Diabetes Mellitus KCNJ11-Related Transient Neonatal DIABETES MELLITUS KETOSIS-PRONE DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM DIABETES MELLITUS PERMANENT NEONATAL 1 DIABETES MELLITUS PERMANENT NEONATAL 2 DIABETES MELLITUS PERMANENT NEONATAL 3 DIABETES MELLITUS PERMANENT NEONATAL 4 Diabetes Mellitus Permanent Neonatal with Cerebellar Agenesis DIABETES MELLITUS TRANSIENT NEONATAL 1 DIABETES MELLITUS TRANSIENT NEONATAL 2 DIABETES MELLITUS TRANSIENT NEONATAL 3 DIAMOND-BLACKFAN ANEMIA 1 DIAMOND-BLACKFAN ANEMIA 10 DIAMOND-BLACKFAN ANEMIA 11 DIAMOND-BLACKFAN ANEMIA 12 Diamond-Blackfan anemia 13 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS Diamond-Blackfan anemia 16 DIAMOND-BLACKFAN ANEMIA 17 DIAMOND-BLACKFAN ANEMIA 18 DIAMOND-BLACKFAN ANEMIA 19 DIAMOND-BLACKFAN ANEMIA 20 DIAMOND-BLACKFAN ANEMIA 3 DIAMOND-BLACKFAN ANEMIA 4 DIAMOND-BLACKFAN ANEMIA 5 DIAMOND-BLACKFAN ANEMIA 6 DIAMOND-BLACKFAN ANEMIA 7 DIAMOND-BLACKFAN ANEMIA 8 DIAMOND-BLACKFAN ANEMIA 9 Diamond-Blackfan anemia with cleft palate and abnormal thumbs DIAMOND-BLACKFAN ANEMIA-LIKE DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Diaphanospondylodysostosis DIAPHRAGMATIC HERNIA 3 Diaphragmatic hernia-short bowel-asplenia syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal medullary stenosis-bone malignancy syndrome DIARRHEA 1 SECRETORY CHLORIDE CONGENITAL DIARRHEA 10 PROTEIN-LOSING ENTEROPATHY TYPE DIARRHEA 11 MALABSORPTIVE CONGENITAL DIARRHEA 2 WITH MICROVILLUS ATROPHY DIARRHEA 3 SECRETORY SODIUM CONGENITAL WITH OR WITHOUT OTHER CONGENITAL ... DIARRHEA 4 MALABSORPTIVE CONGENITAL DIARRHEA 5 WITH TUFTING ENTEROPATHY CONGENITAL DIARRHEA 6 DIARRHEA 7 PROTEIN-LOSING ENTEROPATHY TYPE DIARRHEA 8 SECRETORY SODIUM CONGENITAL DIARRHEA 9 Diastrophic dwarfism Diastrophic dysplasia Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Dicarboxylic aminoaciduria Diencephalic-mesencephalic junction dysplasia DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 Dienoyl-CoA reductase deficiency with hyperlysinemia DIETS-JONGMANS SYNDROME Differentiated thyroid carcinoma Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive ... Diffuse cutaneous systemic sclerosis Diffuse palmoplantar keratoderma with painful fissures Diffuse panbronchiolitis DIGEORGE SYNDROME DIGITAL ARTHROPATHY-BRACHYDACTYLY FAMILIAL DIGITAL CLUBBING ISOLATED CONGENITAL Dihydrolipoamide Dehydrogenase (E3) Deficiency DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY Dihydropteridine reductase deficiency DIHYDROPYRIMIDINASE DEFICIENCY DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Dihydropyrimidinuria Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY Disorder of Golgi homeostasis Disordered cortical neuronal migration DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Disseminated superficial actinic porokeratosis Distal 16p11.2 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 22q11.2 microdeletion syndrome Distal anoctaminopathy DISTAL ARTHROGRYPOSIS TYPE Distal arthrogryposis type 1 DISTAL ARTHROGRYPOSIS TYPE 2A Distal arthrogryposis type 5D Distal hereditary motor neuropathy Jerash type Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 7 Distal monosomy 12p Distal monosomy 15q Distal monosomy 1q Distal myopathy Tateyama type Distal myopathy Welander type Distal myopathy with anterior tibial onset Distal myopathy with posterior leg and anterior hand involvement Distal myotilinopathy Distal nebulin myopathy Distal renal tubular acidosis with anemia distal renal tubular acidosis with deafness DISTINCT DNA BREAKAGE SYNDROME DITRA DK1-CDG DKC1-Related Dyskeratosis Congenita DL-2-hydroxyglutaric aciduria DLG4 related intellectual disability DLG5-associated developmental disorder biallelic DLG5-associated developmental disorder monoallelic DNA Repair-Proficient Trichothiodystrophy DNA2-related mitochondrial DNA deletion syndrome DNAJB2-related Charcot-Marie-Tooth disease type 2 DNAJB6-related limb-girdle muscular dystrophy D1 DNM1L-related developmental disorder monoallelic DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect DOCK2 deficiency Dominant beta-thalassemia Dominant dystrophic epidermolysis bullosa nails only Dominant hypophosphatemia with nephrolithiasis or osteoporosis DONNAI-BARROW SYNDROME DONOHUE SYNDROME DOORS syndrome Dopa-Responsive Dystonia Dopa-responsive dystonia due to sepiapterin reductase deficiency DOPAMINE BETA-HYDROXYLASE DEFICIENCY DOWLING-DEGOS DISEASE DOWLING-DEGOS DISEASE 1 Dowling-Degos disease 2 DOWLING-DEGOS DISEASE 4 DOWN SYNDROME DOYNE HONEYCOMB RETINAL DYSTROPHY DPAGT1-CDG DPM1-CDG DPM3-CDG DPYSL5-related developmental disorder monoallelic DRAVET SYNDROME DRUG METABOLISM ALTERED CES1-RELATEDCARBOXYLESTERASE 1 DEFICIENCY INCLUDED DRUG METABOLISM ALTERED CYP2C8-RELATED DRUG METABOLISM POOR CYP2C19-RELATEDMEPHENYTOIN POOR METABOLISM OF INCLUDED DRUG METABOLISM POOR CYP2D6-RELATED DRUG METABOLISM ULTRARAPID CYP2D6-RELATED ... Drug- or toxin-induced pulmonary arterial hypertension DSP-related developmental disorder Du Pan syndrome Duane retraction syndrome DUANE RETRACTION SYNDROME 2 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS Duane retraction syndrome with congenital deafness Duane Syndrome Aberrant Extraocular Muscle Innervation and Inner-Ear Defects DUANE-RADIAL RAY SYNDROME DUBIN-JOHNSON SYNDROME Dubowitz syndrome Duchenne Muscular Dystrophy DYGGVE-MELCHIOR-CLAUSEN DISEASE DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular ... DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 ... Dysbetalipoproteinemia DYSCHROMATOSIS SYMMETRICA HEREDITARIA DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 Dyschromatosis universalis hereditaria DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 Dyschromatosis universalis hereditaria 3 Dysequilibrium syndrome Dysferlin-related limb-girdle muscular dystrophy R2 DYSFIBRINOGENEMIA CONGENITALHYPODYSFIBRINOGENEMIA CONGENITAL INCLUDED Dyskeratosis congenita DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 1 DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 2 DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 3 DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 4 DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 6 DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 1 Dyskeratosis congenita autosomal recessive 2 DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 3 DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 4 DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 5 DYSKERATOSIS CONGENITA AUTOSOMAL RECESSIVE 6 DYSKERATOSIS CONGENITA X-LINKED DYSKINESIA FAMILIAL WITH FACIAL MYOKYMIA DYSKINESIA LIMB AND OROFACIAL INFANTILE-ONSET DYSLEXIA SUSCEPTIBILITY TO 1 Dysmorphic Features Intellectual Disability and Neurological Manifestations Dysosteosclerosis Dyssegmental dysplasia Silverman-Handmaker type Dysspondyloenchondromatosis DYSTONIA 1 TORSION AUTOSOMAL DOMINANT DYSTONIA 11 MYOCLONIC DYSTONIA 12 DYSTONIA 16 DYSTONIA 2 TORSION AUTOSOMAL RECESSIVE DYSTONIA 24 DYSTONIA 25 DYSTONIA 26 MYOCLONIC DYSTONIA 27 DYSTONIA 28 CHILDHOOD-ONSET DYSTONIA 3 TORSION X-LINKED DYSTONIA 4 TORSION AUTOSOMAL DOMINANT DYSTONIA 6 TORSION DYSTONIA 9 Dystonia childhood-onset with optic atrophy and basal ganglia abnormalities DYSTONIA DOPA-RESPONSIVE DYSTONIA DOPA-RESPONSIVE DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY DYSTONIA JUVENILE-ONSET DYSTONIA TYPE 5 Dystonia-parkinsonism-hypermanganesemia syndrome DYSTROPHIA MYOTONICA TYPE 1 Dystrophic epidermolysis bullosa pruriginosa Ear-patella-short stature syndrome Early infantile epileptic encephalopathy EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Early myoclonic encephalopathy Early onset epileptic encephalopathy Early Onset Isolated Mitochondrial Complex I Deficiency Early-onset anterior polar cataract Early-onset autosomal dominant Alzheimer disease Early-onset calcifying leukoencephalopathy-skeletal dysplasia Early-Onset Epilepsy Early-onset epilepsy-intellectual disability-brain anomalies syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A ... Early-Onset epileptic encephalopathy with persistent myelination defect. Early-onset epileptic encephalopathy-cortical blindness-intellectual syndrome ... Early-onset familial noncirrhotic portal hypertension Early-onset generalized limb-onset dystonia Early-onset Lafora body disease Early-onset lamellar cataract Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria Early-onset myopathy with fatal cardiomyopathy Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Early-Onset Neurodegenerative Encephalopathy Early-onset nuclear cataract Early-onset parkinsonism-intellectual disability syndrome Early-onset posterior polar cataract Early-onset posterior subcapsular cataract Early-onset progressive diffuse brain atrophy-microcephaly-muscle atrophy ... Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain ... Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome EARLY-ONSET RECESSIVE OPTIC NEUROPATHY Early-onset seizures-distal limb anomalies-facial dysmorphism-global delay ... Early-Onset Severe Encephalopathy Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Early-onset sutural cataract EAST syndrome East Texas bleeding disorder Ebstein malformation of the tricuspid valve ECTODERMAL DYSPLASIA 1 HYPOHIDROTIC X-LINKED ECTODERMAL DYSPLASIA 10A HYPOHIDROTIC/HAIR/NAIL TYPE AUTOSOMAL DOMINANT Ectodermal dysplasia 10B hypohidrotic/hair/tooth type autosomal recessive ECTODERMAL DYSPLASIA 11A HYPOHIDROTIC/HAIR/TOOTH TYPE AUTOSOMAL DOMINANT Ectodermal dysplasia 11b hypohidrotic/hair/tooth type autosomal recessive ECTODERMAL DYSPLASIA 12 HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE ECTODERMAL DYSPLASIA 13 HAIR/TOOTH TYPE ECTODERMAL DYSPLASIA 14 HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS ECTODERMAL DYSPLASIA 15 HYPOHIDROTIC/HAIR TYPE Ectodermal dysplasia 4 hair/nail type Ectodermal dysplasia 7 hair/nail type ECTODERMAL DYSPLASIA 9 HAIR/NAIL TYPE ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 Ectodermal dysplasia anhidrotic with immunodeficiency X-linked ECTODERMAL DYSPLASIA ECTRODACTYLY AND MACULAR DYSTROPHY SYNDROME ectodermal dysplasia type 1 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL OCULAR AND BRAIN ... Ectodermal dysplasia-syndactyly syndrome ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Ectodermal dysplasia/short stature syndrome ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME ECTOPIA LENTIS 1 ISOLATED AUTOSOMAL DOMINANT ECTOPIA LENTIS 2 ISOLATED AUTOSOMAL RECESSIVE ECTOPIA LENTIS ET PUPILLAE ECTRODACTYLY ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE SYNDROME 3 ECULIZUMAB POOR RESPONSE TO EDICT syndrome EEC syndrome EEF2-related developmental disorder monoallelic EEM syndrome EFAVIRENZ POOR METABOLISM OF EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY TO ... EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 1 EHLERS-DANLOS SYNDROME ARTHROCHALASIA TYPE 2 Ehlers-Danlos syndrome cardiac valvular type EHLERS-DANLOS SYNDROME CLASSIC TYPE 1 EHLERS-DANLOS SYNDROME CLASSIC TYPE 2 EHLERS-DANLOS SYNDROME CLASSIC-LIKE EHLERS-DANLOS SYNDROME CLASSIC-LIKE 2 Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos Syndrome Kyphoscoliotic Form EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 1 EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC TYPE 2 EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 1 EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 2 EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 1 EHLERS-DANLOS SYNDROME PERIODONTAL TYPE 2 EHLERS-DANLOS SYNDROME PROGEROID TYPE EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 1 EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 2 EHLERS-DANLOS SYNDROME SPONDYLODYSPLASTIC TYPE 3 Ehlers-Danlos syndrome vascular type Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA Ehlers-Danlos/osteogenesis imperfecta syndrome EHMT1-LIKE INTELLECTUAL DISABILITY EHMT1-like SYNDROME EIF2AK1-associated Neurodevelopmental Syndrome EIF2AK2-associated Developmental Delay Leukoencephalopathy and Neurologic ... EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER EIF3F related developmental disorder EIKEN SYNDROME ELLIPTOCYTOSIS 1 ELLIPTOCYTOSIS 2 ELLIPTOCYTOSIS 3 Ellis Van Creveld syndrome ELLIS-VAN CREVELD SYNDROME ELN-Related Cutis Laxa ELSAHY-WATERS SYNDROME Emberger syndrome embryonal rhabdomyosarcoma EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY 2 AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY 3 AUTOSOMAL RECESSIVE Emery-Dreifuss muscular dystrophy 4 autosomal dominant Emery-dreifuss muscular dystrophy 5 autosomal dominant Emery-Dreifuss muscular dystrophy 6 X-linked EMERY-DREIFUSS MUSCULAR DYSTROPHY 7 AUTOSOMAL DOMINANT Emery-Dreifuss muscular dystrophy type 2 EMILIN-1-related connective tissue disease Enamel-renal syndrome ENCEPHALITIS/ENCEPHALOPATHY MILD WITH REVERSIBLE MYELIN VACUOLIZATION Encephalocraniocutaneous lipomatosis ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 1 ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 2 ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 5 ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 6 ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 7 ENCEPHALOPATHY ACUTE INFECTION-INDUCED HERPES-SPECIFIC SUSCEPTIBILITY TO 8 ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 3 ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 4 ENCEPHALOPATHY ACUTE INFECTION-INDUCED SUSCEPTIBILITY TO 9 Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex and a ... ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 Encephalopathy due to prosaposin deficiency ENCEPHALOPATHY ETHYLMALONIC ENCEPHALOPATHY FAMILIAL WITH NEUROSERPIN INCLUSION BODIES ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS ENCEPHALOPATHY NEONATAL SEVERE WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND SPASTICITY ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN ATROPHY AND THIN CORPUS ... ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR 1 ... ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH BRAIN EDEMA AND/OR 2 ... ENCEPHALOPATHY PROGRESSIVE EARLY-ONSET WITH EPISODIC RHABDOMYOLYSIS ENCEPHALOPATHY PROGRESSIVE WITH AMYOTROPHY AND OPTIC ATROPHY Encephalopathy progressive with or without lipodystrophy Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Endocrine-cerebro-osteodysplasia syndrome ENDOCRINE-CEREBROOSTEODYSPLASIA Endometrial Cancer Endometrial stromal sarcoma Endosteal Hyperostosis and Oligodontia ENDOSTEAL HYPEROSTOSIS AUTOSOMAL DOMINANT ENDOSTEAL HYPEROSTOSIS WORTH TYPE Endosteal sclerosis-cerebellar hypoplasia syndrome Enhanced Growth and Connective Tissue Abnormalities ENHANCED S-CONE SYNDROME Enlarged parietal foramina Enlarged Parietal Foramina/Cranium Bifidum ENOLASE SPERM SPECIFIC Enteric anendocrinosis ENTEROKINASE DEFICIENCY Enzalutamide toxicity EOSINOPHIL PEROXIDASE DEFICIENCY Ependymoma EPIDERMODYSPLASIA VERRUCIFORMIS EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 1 EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 2 EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 3 EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 4 EPIDERMODYSPLASIA VERRUCIFORMIS SUSCEPTIBILITY TO 5 EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL DOMINANT EPIDERMOLYSIS BULLOSA DYSTROPHICA AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA PRETIBIAL EPIDERMOLYSIS BULLOSA JUNCTIONAL HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONAL NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA NONSPECIFIC AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA PRURIGINOSA EPIDERMOLYSIS BULLOSA SIMPLEX AUTOSOMAL RECESSIVE 1 Epidermolysis bullosa simplex autosomal recessive 2 Epidermolysis bullosa simplex autosomal recessive K14 EPIDERMOLYSIS BULLOSA SIMPLEX DOWLING-MEARA TYPE Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency EPIDERMOLYSIS BULLOSA SIMPLEX GENERALIZED Epidermolysis bullosa simplex generalized intermediate Epidermolysis bullosa simplex generalized severe Epidermolysis bullosa simplex generalized with scarring and hair loss EPIDERMOLYSIS BULLOSA SIMPLEX LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX OGNA TYPE Epidermolysis bullosa simplex with circinate migratory erythema EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Epidermolysis bullosa simplex with nail dystrophy EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY ... Epidermolysis Bullosa with Pyloric Atresia EPIDERMOLYTIC HYPERKERATOSIS Epidermolytic palmoplantar keratoderma Epilepsy and intellectual disability EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 5 EPILEPSY CHILDHOOD ABSENCE SUSCEPTIBILITY TO 6 EPILEPSY EARLY-ONSET VITAMIN B6-DEPENDENT EPILEPSY EARLY-ONSET WITH OR WITHOUT DEVELOPMENTAL DELAY EPILEPSY FAMILIAL ADULT MYOCLONIC 1 EPILEPSY FAMILIAL ADULT MYOCLONIC 2 EPILEPSY FAMILIAL ADULT MYOCLONIC 3 EPILEPSY FAMILIAL ADULT MYOCLONIC 4 Epilepsy familial adult myoclonic 5 EPILEPSY FAMILIAL ADULT MYOCLONIC 6 EPILEPSY FAMILIAL ADULT MYOCLONIC 7 EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1 EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 2 EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 EPILEPSY FAMILIAL TEMPORAL LOBE 1 EPILEPSY FAMILIAL TEMPORAL LOBE 5 EPILEPSY FAMILIAL TEMPORAL LOBE 7 EPILEPSY FAMILIAL TEMPORAL LOBE 8 Epilepsy focal with speech disorder and with or without mental retardation Epilepsy generalized with febrile seizures plus type 3 EPILEPSY HEARING LOSS AND MENTAL RETARDATION SYNDROME EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 10 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 11 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 12 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 13 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 14 Epilepsy idiopathic generalized susceptibility to 15 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 16 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 8 EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 9 EPILEPSY JUVENILE ABSENCE SUSCEPTIBILITY TO 1 EPILEPSY JUVENILE MYOCLONIC SUSCEPTIBILITY TO 10 EPILEPSY NOCTURNAL FRONTAL LOBE 1 EPILEPSY NOCTURNAL FRONTAL LOBE 3 EPILEPSY NOCTURNAL FRONTAL LOBE 4 EPILEPSY NOCTURNAL FRONTAL LOBE 5 Epilepsy progressive myoclonic 10 EPILEPSY PROGRESSIVE MYOCLONIC 11 EPILEPSY PROGRESSIVE MYOCLONIC 1B EPILEPSY PROGRESSIVE MYOCLONIC 3 WITH OR WITHOUT INTRACELLULAR INCLUSIONS Epilepsy progressive myoclonic 4 with or without renal failure EPILEPSY PROGRESSIVE MYOCLONIC 6 Epilepsy progressive myoclonic 7 EPILEPSY PROGRESSIVE MYOCLONIC 8 Epilepsy progressive myoclonic 9 EPILEPSY PYRIDOXINE-DEPENDENT Epilepsy rolandic with paroxysmal exercise-induced dystonia and writers cramp Epilepsy with myoclonic-Atonic seizures EPILEPSY X-LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Epileptic encephalopathy Epileptic encephalopathy childhood-onset Epileptic Encephalopathy due to congenital disorder of glycosylation Epileptic encephalopathy early infantile Epileptic Encephalopathy Early Infantile 12 Epileptic encephalopathy early infantile 13 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 23 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24 Epileptic encephalopathy early infantile 26 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 28 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 3 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 EPILEPTIC ENCEPHALOPATHY Gain-of-function EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1 EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 2 EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 3 Epileptic encephalopathy Lennox-Gastaut type EPILEPTIC ENCEPHALOPATHY Loss-of-function Epileptic encephalopathy with complex movement disorder and regression Epileptic encephalopathy with continuous spike-and-wave during sleep Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesia Epileptic encephalopathy with global cerebral demyelination Epileptic Encephalopathy with Optic Atrophy Epileptic Encephalopathy with Seizure Onset in the First Days of Life Epimerase-deficiency galactosemia Epiphyseal chondrodysplasia miura type EPIPHYSEAL DYSPLASIA MULTIPLE 1 EPIPHYSEAL DYSPLASIA MULTIPLE 2 EPIPHYSEAL DYSPLASIA MULTIPLE 3 EPIPHYSEAL DYSPLASIA MULTIPLE 4 EPIPHYSEAL DYSPLASIA MULTIPLE 5 EPIPHYSEAL DYSPLASIA MULTIPLE 6 EPIPHYSEAL DYSPLASIA MULTIPLE 7 EPIPHYSEAL DYSPLASIA MULTIPLE WITH EARLY-ONSET DIABETES MELLITUS Epiphyseal dysplasia multiple with myopia and conductive deafness Episodes of Liver Failure Peripheral Neuropathy Cerebellar Atrophy and Ataxia Episodic ataxia type 1 EPISODIC ATAXIA TYPE 2 Episodic ataxia type 5 Episodic ataxia type 6 EPISODIC ATAXIA TYPE 9 EPISODIC KINESIGENIC DYSKINESIA 1 EPISODIC PAIN SYNDROME FAMILIAL EPISODIC PAIN SYNDROME FAMILIAL 1 EPISODIC PAIN SYNDROME FAMILIAL 2 Episodic pain syndrome familial 3 Epithelial basement membrane dystrophy Epithelial recurrent erosion dystrophy Epithelioid hemangioendothelioma EPT1-related complex progressive hereditary spastic paraplegia ERYTHERMALGIA PRIMARY ERYTHROCYTE AMP DEAMINASE DEFICIENCY Erythrocyte galactose epimerase deficiency ERYTHROCYTE LACTATE TRANSPORTER DEFECT ERYTHROCYTOSIS FAMILIAL 1 ERYTHROCYTOSIS FAMILIAL 2 AUTOSOMAL RECESSIVE ERYTHROCYTOSIS FAMILIAL 3 ERYTHROCYTOSIS FAMILIAL 4 ERYTHROCYTOSIS FAMILIAL 5 ERYTHROCYTOSIS FAMILIAL 6 ERYTHROCYTOSIS FAMILIAL 7 ERYTHROCYTOSIS FAMILIAL 8 Erythroderma congenital with palmoplantar keratoderma hypotrichosis and ... ERYTHRODERMA ICHTHYOSIFORM CONGENITAL RETICULAR Erythrokeratodermia variabilis ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 Erythrokeratodermia-cardiomyopathy syndrome ERYTHROLEUKEMIA FAMILIAL SUSCEPTIBILITY TO ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA SUSCEPTIBILITY TO INCLUDED Essential fructosuria Essential thrombocythemia ESTROGEN RESISTANCE Estrogen resistance syndrome Ethylmalonic encephalopathy EVEN-PLUS SYNDROME Ewing sarcoma Exercise-induced hyperinsulinism Exercise-induced malignant hyperthermia Exfoliation syndrome Exfoliative ichthyosis Exfoliative ichthyosis autosomal recessive ichthyosis bullosa of Siemens-like EXOCRINE PANCREATIC INSUFFICIENCY DYSERYTHROPOIETIC ANEMIA AND CALVARIAL ... Exostoses multiple type 2 EXOSTOSES MULTIPLE TYPE I EXOSTOSES MULTIPLE TYPE II External auditory canal aplasia/hypoplasia External Ophthalmoplegia Rib and Vertebral Anomalies EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY Extraskeletal Ewing sarcoma Extraskeletal myxoid chondrosarcoma EXTREME MYOPIA;MYOPIA 23 AUTOSOMAL RECESSIVE EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE EXUDATIVE VITREORETINOPATHY 1 EXUDATIVE VITREORETINOPATHY 2 X-LINKED Exudative vitreoretinopathy 4 EXUDATIVE VITREORETINOPATHY 5 Exudative vitreoretinopathy 6 EXUDATIVE VITREORETINOPATHY 7 F12-related hereditary angioedema with normal C1Inh FABRY DISEASE FACIAL CLEFTING OBLIQUE 1 Facial dysmorphism hypertrichosis epilepsy intellectual delay and gingival ... FACIAL DYSMORPHISM HYPERTRICHOSIS EPILEPSY INTELLECTUAL/DEVELOPMENTAL DELAY AND ... FACIAL DYSMORPHISM IMMUNODEFICIENCY LIVEDO AND SHORT STATURE FACIAL DYSMORPHISM LENS DISLOCATION ANTERIOR SEGMENT ABNORMALITIES AND BLEBS ... Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to ... Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to ... Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous ... FACIAL PALSY CONGENITAL WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION FACIAL PARESIS HEREDITARY CONGENITAL 3 Facioscapulohumeral dystrophy FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 1 FACTOR V AND FACTOR VIII COMBINED DEFICIENCY OF 2 FACTOR V DEFICIENCY FACTOR VII DEFICIENCY FACTOR X DEFICIENCY FACTOR XI DEFICIENCY FACTOR XII DEFICIENCY FACTOR XIII A SUBUNIT DEFICIENCY OF FACTOR XIII B SUBUNIT DEFICIENCY OF FADD-related immunodeficiency FAILURE OF TOOTH ERUPTION PRIMARY Familial hyperprolactinemia Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy Familial adenomatous polyposis 1 FAMILIAL ADENOMATOUS POLYPOSIS 2 FAMILIAL ADENOMATOUS POLYPOSIS 3 FAMILIAL ADENOMATOUS POLYPOSIS 4 Familial adenomatous polyposis due to 5q22.2 microdeletion FAMILIAL ADVANCED SLEEP-PHASE SYNDROME Familial afibrinogenemia Familial Alzheimer-like prion disease Familial aortic dissection Familial apolipoprotein A5 deficiency Familial apolipoprotein C-II deficiency Familial atrial fibrillation Familial atrial myxoma Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease Familial atypical multiple mole melanoma syndrome Familial avascular necrosis of femoral head Familial benign chronic pemphigus Familial benign flecked retina Familial bicuspid aortic valve Familial calcium pyrophosphate deposition Familial cavitary optic disc anomaly Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial Chilblain lupus Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 Familial cold autoinflammatory syndrome 4 Familial cold urticaria Familial colorectal cancer Type X Familial congenital mirror movements Familial congenital nasolacrimal duct obstruction Familial cortical myoclonus Familial cutaneous telangiectasia and oropharyngeal cancer predisposition ... Familial cylindromatosis Familial Diarrhea DIARRHEA 6 Familial digital arthropathy-brachydactyly Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial drusen Familial dysautonomia Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial encephalopathy with neuroserpin inclusion bodies Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement FAMILIAL EXPANSILE OSTEOLYSIS Familial exudative vitreoretinopathy FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI Familial gastric type 1 neuroendocrine tumor Familial generalized lentiginosis Familial gestational hyperthyroidism Familial glucocorticoid deficiency Familial GPIHBP1 deficiency Familial hemophagocytic lymphohistiocytosis Familial Horizontal Gaze Palsy with Progressive Scoliosis Familial hyperaldosteronism type I Familial hyperaldosteronism type III Familial hypercholanemia familial hyperinsulinism Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis ... Familial hyperthyroidism due to mutations in TSH receptor Familial hypoaldosteronism Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial infantile bilateral striatal necrosis Familial infantile myoclonic epilepsy Familial Infantile Myofibromatosis Familial isolated arrhythmogenic ventricular dysplasia biventricular form Familial isolated arrhythmogenic ventricular dysplasia left dominant form Familial isolated arrhythmogenic ventricular dysplasia right dominant form Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial Isolated Hypoparathyroidism Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated hypoparathyroidism due to impaired PTH secretion Familial isolated pituitary adenoma Familial isolated restrictive cardiomyopathy Familial isolated trichomegaly Familial lambdoid synostosis Familial LCAT deficiency Familial lipase maturation factor 1 deficiency Familial lipoprotein lipase deficiency Familial male-limited precocious puberty FAMILIAL MEDITERRANEAN FEVER FAMILIAL MEDITERRANEAN FEVER AUTOSOMAL DOMINANT Familial medullary thyroid carcinoma Familial melanoma Familial mesial temporal lobe epilepsy with febrile seizures Familial mitral valve prolapse Familial multinodular goiter Familial multiple meningioma Familial multiple nevi flammei Familial multiple trichoepithelioma Familial normophosphatemic tumoral calcinosis Familial or sporadic hemiplegic migraine Familial osteochondritis dissecans Familial pancreatic carcinoma Familial papillary or follicular thyroid carcinoma Familial paroxysmal ataxia Familial partial lipodystrophy Dunnigan type Familial partial lipodystrophy Kobberling type FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 Familial patent arterial duct Familial platelet disorder with associated myeloid malignancy Familial porencephaly Familial porphyria cutanea tarda Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with ... Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis severe ... Familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary localized cutaneous amyloidosis Familial progressive cardiac conduction defect Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive retinal dystrophy-iris coloboma-congenital cataract ... Familial prostate cancer Familial pseudohyperkalemia Familial renal glucosuria Familial retinal arterial macroaneurysm Familial rhabdoid tumor Familial scaphocephaly syndrome McGillivray type Familial schizencephaly FAMILIAL SCHIZENCEPHALY EMX2-RELATED Familial short QT syndrome Familial sick sinus syndrome Familial spontaneous pneumothorax Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Familial steroid-resistant nephrotic syndrome with sensorineural deafness Familial thoracic aortic aneurysm and aortic dissection Familial thrombocytosis Familial thyroid dyshormonogenesis Familial vesicoureteral reflux Familial visceral myopathy FANCB-Related Fanconi Anemia FANCM-Related Fanconi Anemia Fanconi anemia Fanconi anemia complementation group 0 FANCONI ANEMIA COMPLEMENTATION GROUP A FANCONI ANEMIA COMPLEMENTATION GROUP B Fanconi anemia complementation group C FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 FANCONI ANEMIA COMPLEMENTATION GROUP D1 FANCONI ANEMIA COMPLEMENTATION GROUP D2 FANCONI ANEMIA COMPLEMENTATION GROUP E FANCONI ANEMIA COMPLEMENTATION GROUP F FANCONI ANEMIA COMPLEMENTATION GROUP G Fanconi anemia complementation group I FANCONI ANEMIA COMPLEMENTATION GROUP J FANCONI ANEMIA COMPLEMENTATION GROUP L FANCONI ANEMIA COMPLEMENTATION GROUP N Fanconi anemia complementation group O FANCONI ANEMIA COMPLEMENTATION GROUP P Fanconi anemia complementation group Q FANCONI ANEMIA COMPLEMENTATION GROUP R FANCONI ANEMIA COMPLEMENTATION GROUP S Fanconi anemia complementation group t Fanconi anemia complementation group U FANCONI ANEMIA COMPLEMENTATION GROUP V FANCONI ANEMIA COMPLEMENTATION GROUP W Fanconi renotubular syndrome 1 FANCONI RENOTUBULAR SYNDROME 2 FANCONI RENOTUBULAR SYNDROME 3 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young FANCONI RENOTUBULAR SYNDROME 5 FANCONI-BICKEL SYNDROME Farber disease Farber lipogranulomatosis FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 FASTKD2-related infantile mitochondrial encephalomyopathy Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Fatal encephalopathy lactic acidosis and severe mtDNA depletion in muscle FATAL FAMILIAL INSOMNIA Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile hypertonic myofibrillar myopathy Fatal Infantile Lactic Acidosis Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect 3 ... Fatal post-viral neurodegenerative disorder Fatty acid hydroxylase-associated neurodegeneration Fatty acyl-CoA reductase 1 deficiency FAZIO-LONDE DISEASE FBLN1-related developmental delay-central nervous system anomaly-syndactyly ... FBX028-related developmental and epileptic encephalopathy with profound ... FBXW7-related developmental disorder monoallelic FEBRILE SEIZURES FAMILIAL 11 FEBRILE SEIZURES FAMILIAL 4 FEBRILE SEIZURES FAMILIAL 8 FEINGOLD SYNDROME FEINGOLD SYNDROME 1 FEINGOLD SYNDROME 2 Feingold syndrome type 1 Feingold syndrome type 2 Female infertility due to oocyte meiotic arrest Female infertility due to zona pellucida defect Female restricted epilepsy with intellectual disability Ferro-cerebro-cutaneous syndrome FETAL AKINESIA DEFORMATION SEQUENCE FETAL AKINESIA DEFORMATION SEQUENCE 1 FETAL AKINESIA DEFORMATION SEQUENCE 2 FETAL AKINESIA DEFORMATION SEQUENCE 3 FETAL AKINESIA DEFORMATION SEQUENCE 4 Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal and neonatal alloimmune thrombocytopenia Fetal encasement syndrome Fetal Gaucher disease FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 Fever-associated acute infantile liver failure syndrome FG SYNDROME 2 FG SYNDROME 4 FG syndrome type 1 FG SYNDROME TYPE 4 FGF13-related neurodevelopmental disorder hemizygous FGF13-related neurodevelopmental disorder X-linked dominant FGF14-related episodic ataxia FGFR2-related bent bone dysplasia FHEIG (facial dysmorphism hypertrichosis epilepsy intellectual delay and ... Fibrillary astrocytoma Fibrochondrogenesis FIBROCHONDROGENESIS 1 FIBROCHONDROGENESIS 2 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Fibrolamellar hepatocellular carcinoma FIBROMATOSIS GINGIVAL 1 FIBROMATOSIS GINGIVAL 5 Fibronectin glomerulopathy Fibrosarcoma FIBROSIS NEURODEGENERATION AND CEREBRAL ANGIOMATOSIS FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 1 FIBROSIS OF EXTRAOCULAR MUSCLES CONGENITAL 2 Fibrosis of extraocular muscles congenital 3a with or without extraocular ... Fibrosis of extraocular muscles congenital 5 FIBULAR APLASIA OR HYPOPLASIA FEMORAL BOWING AND POLY- SYN- AND OLIGODACTYLY Fibular aplasia-complex brachydactyly syndrome FICOLIN 3 DEFICIENCY Filippi syndrome Filippi syndrome. syndactyly type i with microcephaly and mental retardation FISH-EYE DISEASE FKRP-related limb-girdle muscular dystrophy R9 FLECK CORNEAL DYSTROPHY FLECK RETINA FAMILIAL BENIGN FLNA-related X-linked myxomatous valvular dysplasia FLOATING-HARBOR SYNDROME FOCAL CORTICAL DYSPLASIA TYPE II FOCAL DERMAL HYPOPLASIA Focal epilepsy Focal epilepsy - intellectual disability - cerebro-cerebellar malformation FOCAL FACIAL DERMAL DYSPLASIA 3 SETLEIS TYPE FOCAL FACIAL DERMAL DYSPLASIA 4 Focal facial dermal dysplasia type III Focal facial dermal dysplasia type IV Focal palmoplantar keratoderma with joint keratoses FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 SUSCEPTIBILITY TO FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 SUSCEPTIBILITY TO FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 Focal segmental glomerulosclerosis 7 Focal segmental glomerulosclerosis 8 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 FOLATE MALABSORPTION HEREDITARY Follicular lymphoma FONTAINE PROGEROID SYNDROME Formiminoglutamic aciduria FOVEAL HYPOPLASIA 1 Foveal hypoplasia 2 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis ... Foveal hypoplasia-presenile cataract syndrome Fowler vasculopaty FOXG1 syndrome FOXP4-related Developmental Disorder Fragile X syndrome FRAGILE X TREMOR/ATAXIA SYNDROME Fragile X-associated tremor/ataxia syndrome FRAGILE X-E MENTAL RETARDATION SYNDROME FRANK-TER HAAR SYNDROME FRASER SYNDROME FRASER SYNDROME 1 FRASER SYNDROME 2 FRASER SYNDROME 3 FRASIER SYNDROME FRAXE intellectual disability FRAXF syndrome Free sialic acid storage disease infantile form Freeman-Sheldon syndrome Fried syndrome FRIEDREICH ATAXIA FRONTOMETAPHYSEAL DYSPLASIA FRONTOMETAPHYSEAL DYSPLASIA 1 FRONTOMETAPHYSEAL DYSPLASIA 2 FRONTONASAL DYSPLASIA 1 Frontonasal dysplasia 2 FRONTONASAL DYSPLASIA 3 FRONTONASAL DYSPLASIA TYPE 1 FRONTONASAL DYSPLASIA TYPE 3 Frontonasal dysplasia-alopecia-genital anomalies syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny FRONTOTEMPORAL DEMENTIA FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 FRONTOTEMPORAL DEMENTIA CHROMOSOME 3-LINKED Frontotemporal dementia with motor neuron disease FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS GRN-RELATED FRUCTOSE INTOLERANCE HEREDITARY FRUCTOSE-16-BISPHOSPHATASE DEFICIENCY FRUCTOSURIA ESSENTIAL Fryns syndrome FTH1-related iron overload Fuchs endothelial corneal dystrophy FUCOSIDOSIS FUCOSYLTRANSFERASE 6 DEFICIENCY FUHRMANN SYNDROME Fukutin-related limb-girdle muscular dystrophy R13 FUMARASE DEFICIENCY Fumaric aciduria FUNDUS ALBIPUNCTATUS FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS INCLUDED GABA-TRANSAMINASE DEFICIENCY GABRIELE-DE VRIES SYNDROME GALACTOKINASE DEFICIENCY Galactose mutarotase deficiency GALACTOSEMIA GALACTOSEMIA I Galactosemia II GALACTOSEMIA III GALACTOSEMIA IV GALACTOSIALIDOSIS GALLBLADDER DISEASE 1 GALLBLADDER DISEASE 4 GALLOWAY-MOWAT SYNDROME GALLOWAY-MOWAT SYNDROME 1 GALLOWAY-MOWAT SYNDROME 2 GALLOWAY-MOWAT SYNDROME 2 X-LINKED GALLOWAY-MOWAT SYNDROME 3 GALLOWAY-MOWAT SYNDROME 4 GALLOWAY-MOWAT SYNDROME 5 GALLOWAY-MOWAT SYNDROME 6 GALLOWAY-MOWAT SYNDROME 7 GALLOWAY-MOWAT SYNDROME 8 Galloway-Mowat syndrome: microcephaly and steroid-Resistant nephrotic syndrome Gamma-aminobutyric acid transaminase deficiency Gamma-glutamyl transpeptidase deficiency GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY HEMOLYTIC ANEMIA DUE TO Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 GAND SYNDROME GAP JUNCTION PROTEIN BETA-3 GAPO syndrome GARDNER SYNDROME Gastric adenocarcinoma and proximal polyposis of the stomach GASTRIC CANCER HEREDITARY DIFFUSE GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME Gastrointestinal stromal tumor GASTROINTESTINAL ULCERATION RECURRENT WITH DYSFUNCTIONAL PLATELETS GAUCHER DISEASE ATYPICAL DUE TO SAPOSIN C DEFICIENCY Gaucher disease perinatal lethal GAUCHER DISEASE TYPE 1 Gaucher disease type 2 Gaucher disease type 3 GAUCHER DISEASE TYPE I GAUCHER DISEASE TYPE II GAUCHER DISEASE TYPE III GAUCHER DISEASE TYPE IIIC Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 1 GAZE PALSY FAMILIAL HORIZONTAL WITH PROGRESSIVE SCOLIOSIS 2 WITHIMPAIRED ... GCGR-related hyperglucagonemia GDF3 multiple malformations GDF5-related Symphalangism Spectrum Disorder GDF6 Oculo-Skeletal Syndrome GELATINOUS DROP-LIKE CORNEAL DYSTROPHY Geleophysic dysplasia GELEOPHYSIC DYSPLASIA 1 GELEOPHYSIC DYSPLASIA 2 GELEOPHYSIC DYSPLASIA 3 Gemistocytic astrocytoma Generalized arterial calcification of infancy Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets Generalized dominant dystrophic epidermolysis bullosa GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 1 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 2 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 7 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized galactose epimerase deficiency Generalized glucocorticoid resistance syndrome Generalized juvenile polyposis/juvenile polyposis coli Generalized pseudohypoaldosteronism type 1 Generalized pustular psoriasis Genetic hyperferritinemia without iron overload Genetic recurrent myoglobinuria Genetic steroid-resistant nephrotic syndrome Genetic transient congenital hypothyroidism Genitopatellar syndrome GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME Germinoma of the central nervous system Geroderma osteodysplastica GERODERMA OSTEODYSPLASTICUM GERSTMANN-STRAUSSLER DISEASE Gerstmann-Straussler-Scheinker syndrome GHOSAL HEMATODIAPHYSEAL DYSPLASIA Ghosal hematodiaphyseal syndrome Giant axonal neuropathy Giant axonal neuropathy 1 GIANT AXONAL NEUROPATHY 1 AUTOSOMAL RECESSIVE GIANT AXONAL NEUROPATHY 2 AUTOSOMAL DOMINANT Giant cell arteritis Giant cell glioblastoma GIGYF1-related developmental disorder monoallelic GIL BLOOD GROUP GILBERT SYNDROME GILLES DE LA TOURETTE SYNDROME Gillespie Syndrome Gillespie Syndrome monoallelic GILLESSEN-KAESBACH-NISHIMURA SYNDROME Gingival fibromatosis-hypertrichosis syndrome GIST-PLUS SYNDROME GITELMAN SYNDROME GLANZMANN THROMBASTHENIA GLASS SYNDROME GLAUCOMA 1 OPEN ANGLE A GLAUCOMA 1 OPEN ANGLE F GLAUCOMA 1 OPEN ANGLE G GLAUCOMA 1 OPEN ANGLE O GLAUCOMA 3 PRIMARY CONGENITAL A GLAUCOMA 3 PRIMARY CONGENITAL D GLAUCOMA 3 PRIMARY CONGENITAL E GLAUCOMA 3 PRIMARY INFANTILE B GLAUCOMA NORMAL TENSION SUSCEPTIBILITY TO GLAUCOMA PRIMARY CLOSED-ANGLE GLAUCOMA PRIMARY OPEN ANGLE Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome GLDC-Related Glycine Encephalopathy GLI2-Related Holoprosencephaly GLIOMA SUSCEPTIBILITY 1 GLIOMA SUSCEPTIBILITY 2 GLIOMA SUSCEPTIBILITY 3 GLIOMA SUSCEPTIBILITY 9 Gliosarcoma Global developmental delay absent or hypoplastic corpus callosum and dysmorphic ... Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy Global Developmental Delay Hypotonia Scoliosis and Cerebellar Atrophy Biallelic GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH AND WILMS TUMOR Global Developmental Delay Multiple Malformations GLOBAL DEVELOPMENTAL DELAY PROGRESSIVE ATAXIA AND ELEVATED GLUTAMINE GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural ... Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome Global developmental delay-neuro-ophthalmological disability syndrome ... Global developmental delay-visual anomalies-progressive cerebellar hypotonia ... GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 Glomuvenous malformation GLOMUVENOUS MALFORMATIONS GLUCOCORTICOID DEFICIENCY 1 GLUCOCORTICOID DEFICIENCY 2 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency GLUCOCORTICOID DEFICIENCY 5 GLUCOCORTICOID RESISTANCE GENERALIZED GLUCOCORTICOID THERAPY RESPONSE TO Glucose transporter type 1 deficiency syndrome Glucose-galactose malabsorption GLUCOSE/GALACTOSE MALABSORPTION GLUT1 DEFICIENCY SYNDROME 1 GLUT1 DEFICIENCY SYNDROME 2 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY Glutamate-cysteine ligase deficiency GLUTAMINE DEFICIENCY CONGENITAL GLUTARIC ACIDEMIA I Glutaric acidemia type 3 GLUTARIC ACIDURIA III glutaric aciduria type 2A glutaric aciduria type 2B glutaric aciduria type 2C Glutaricacidemia Type 1 Glutaryl-CoA dehydrogenase deficiency GLUTATHIONE PEROXIDASE DEFICIENCY GLUTATHIONE SYNTHETASE DEFICIENCY GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES HEMOLYTIC ANEMIA DUE TO Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria GLUTATHIONURIA GLYCEROL KINASE 2 Glycerol Kinase Deficiency Glycerol kinase deficiency adult form Glycerol kinase deficiency juvenile form GLYCEROL QUANTITATIVE TRAIT LOCUS GLYCINE ENCEPHALOPATHY Glycine Encephalopathy with Arthrogryposis GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE GLYCINE N-METHYLTRANSFERASE DEFICIENCY GLYCOGEN STORAGE DISEASE 0 LIVER GLYCOGEN STORAGE DISEASE 0 MUSCLE Glycogen storage disease due to acid maltase deficiency infantile onset Glycogen storage disease due to acid maltase deficiency late-onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency adult form ... Glycogen storage disease due to glycogen branching enzyme deficiency childhood ... Glycogen storage disease due to glycogen branching enzyme deficiency childhood ... Glycogen storage disease due to glycogen branching enzyme deficiency congenital ... Glycogen storage disease due to glycogen branching enzyme deficiency fatal form ... Glycogen storage disease due to glycogen branching enzyme deficiency non form ... Glycogen storage disease due to glycogen branching enzyme deficiency hepatic ... Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency GLYCOGEN STORAGE DISEASE Ia GLYCOGEN STORAGE DISEASE Ib GLYCOGEN STORAGE DISEASE Ic GLYCOGEN STORAGE DISEASE II GLYCOGEN STORAGE DISEASE III GLYCOGEN STORAGE DISEASE IV GLYCOGEN STORAGE DISEASE IXa1 GLYCOGEN STORAGE DISEASE IXb GLYCOGEN STORAGE DISEASE IXc GLYCOGEN STORAGE DISEASE OF HEART LETHAL CONGENITAL GLYCOGEN STORAGE DISEASE TYPE II Glycogen Storage Disease Type III GLYCOGEN STORAGE DISEASE TYPE IXd Glycogen Storage Disease Type VI GLYCOGEN STORAGE DISEASE V GLYCOGEN STORAGE DISEASE VI GLYCOGEN STORAGE DISEASE VII Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency GLYCOGEN STORAGE DISEASE X GLYCOGEN STORAGE DISEASE XI GLYCOGEN STORAGE DISEASE XII GLYCOGEN STORAGE DISEASE XIII GLYCOGEN STORAGE DISEASE XV Glycosylation Disorder Characterized by Intellectual Disability and Autonomic ... GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM1-GANGLIOSIDOSIS TYPE I GM1-GANGLIOSIDOSIS TYPE II GM1-GANGLIOSIDOSIS TYPE III GM2 gangliosidosis AB variant GM2-GANGLIOSIDOSIS AB VARIANT GM2-GANGLIOSIDOSIS TYPE 1 GM2-GANGLIOSIDOSIS TYPE 2 GM2-GANGLIOSIDOSIS TYPE AB GM3 synthase deficiency GMPPB-related limb-girdle muscular dystrophy R19 GNAI1 syndrome GNATHODIAPHYSEAL DYSPLASIA GNB2-related developmental disorder monoallelic GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. GNB5-related intellectual disability-cardiac arrhythmia syndrome GNE myopathy Goiter multinodular 1 with or without sertoli-leydig cell tumors GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME GOLDBERG-SHPRINTZEN SYNDROME Goldmann-Favre syndrome Gollop-Wolfgang complex Gomez-Lopez-Fernandes syndrome GONADAL DYSGENESIS DYSMORPHIC FACIES RETINAL DYSTROPHY AND MYOPATHY GORDON HOLMES SYNDROME Gordon syndrome Gorlin syndrome Gorlin-Chaudhry-Moss syndrome Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis Progeroid ... GRACILE BONE DYSPLASIA GRACILE SYNDROME GRAFT-VERSUS-HOST DISEASE SUSCEPTIBILITY TO Graham Little-Piccardi-Lassueur syndrome GRANGE SYNDROME Granular corneal dystrophy type I Granular corneal dystrophy type II Granulomatosis with polyangiitis GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 1 GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 2 GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 3 GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 4 GRANULOMATOUS DISEASE CHRONIC AUTOSOMAL RECESSIVE 5 GRANULOMATOUS DISEASE CHRONIC X-LINKED GRAY PLATELET SYNDROME Greenberg dysplasia GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GRIA2-related developmental disorder monoallelic GRID2-related cerebellar ataxia biallelic GRID2-related cerebellar ataxia monoallelic Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis ... Growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor type 1 deficiency Growth delay-intellectual disability-hepatopathy syndrome GROWTH HORMONE DEFICIENCY ISOLATED PARTIAL GROWTH HORMONE INSENSITIVITY PARTIAL GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1 AUTOSOMAL ... GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2 AUTOSOMAL ... GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY GROWTH RETARDATION DEVELOPMENTAL DELAY AND FACIAL DYSMORPHISM GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH GROWTH RETARDATION IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA ANDHEPATOPATHY Growth Retardation with Prenatal Onset Intellectual Disability Muscular and ... Growth retardation-mild developmental delay-chronic hepatitis syndrome GTP CYCLOHYDROLASE 1 DEFICIENCY GTP cyclohydrolase I deficiency GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GUILLAIN-BARRE SYNDROME FAMILIAL Guttmacher syndrome Gynandroblastoma GYRATE ATROPHY OF CHOROID AND RETINA H syndrome HACE1 related disorder Haddad syndrome Haim-Munk syndrome HAIR MORPHOLOGY 1 Hairy cell leukemia variant Hajdu-Cheney syndrome HALLERMANN-STREIFF SYNDROME HAMAMY SYNDROME Hamel cerebro-palato-cardiac syndrome HANAC syndrome HAND-FOOT-GENITAL SYNDROME HAO-FOUNTAIN SYNDROME Harderoporphyria HAREL-YOON SYNDROME HARLEQUIN ICHTHYOSIS Hartnup disease HARTNUP DISORDER HARTSFIELD SYNDROME HASHIMOTO THYROIDITIS HAWKINSINURIA Hb Bart's Hydrops Fetalis Hearing loss HEART AND BRAIN MALFORMATION SYNDROME Heart defect-tongue hamartoma-polysyndactyly syndrome HEART DEFECTS CONGENITAL AND OTHER CONGENITAL ANOMALIES HEART-HAND SYNDROME SLOVENIAN TYPE HEIMLER SYNDROME 1 HEIMLER SYNDROME 2 HEINZ BODY ANEMIAS HELICOBACTER PYLORI INFECTION SUSCEPTIBILITY TO Helicoid peripapillary chorioretinal degeneration HELIX SYNDROME HELLP syndrome HELSMOORTEL-VAN DER AA SYNDROME HEMANGIOMA CAPILLARY INFANTILE HEMATURIA BENIGN FAMILIAL HEME OXYGENASE 1 DEFICIENCY Hemihyperplasia-multiple lipomatosis syndrome Hemimegalencephaly Hemimegalencephaly AKT3 Hemimegalencephaly PIK3CA HEMOCHROMATOSIS TYPE 1 Hemochromatosis type 2 HEMOCHROMATOSIS TYPE 2A HEMOCHROMATOSIS TYPE 2B Hemochromatosis type 3 Hemochromatosis type 4 Hemochromatosis type 5 Hemoglobin C disease Hemoglobin C-beta-thalassemia syndrome Hemoglobin D disease Hemoglobin E disease Hemoglobin E-beta-thalassemia syndrome HEMOGLOBIN H DISEASE HEMOGLOBIN HIGH ALTITUDE ADAPTATION Hemoglobin Lepore-beta-thalassemia syndrome Hemoglobin M disease Hemoglobinopathy Toms River HEMOLYTIC ANEMIA CD59-MEDIATED WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY HEMOLYTIC ANEMIA CONGENITAL X-LINKED Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to glutathione reductase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to red cell pyruvate kinase deficiency HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY HEMOLYTIC ANEMIA NONSPHEROCYTIC DUE TO HEXOKINASE DEFICIENCY HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 1 HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 2 HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 3 HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 4 HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 5 HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 6 Hemolytic uremic syndrome with DGKE deficiency HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 2 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 3 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 4 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5 HEMOPHILIA A HEMOPHILIA B HEMORRHAGE INTRACEREBRAL SUSCEPTIBILITY TO Hemorrhagic destruction of the brain subependymal calcification and cataracts Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 Hennekam syndrome HEPARIN COFACTOR II DEFICIENCY HEPATIC ADENOMAS FAMILIAL HEPATIC LIPASE DEFICIENCY Hepatic veno-occlusive disease-immunodeficiency syndrome HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY HEPATITIS B VIRUS SUSCEPTIBILITY TO HEPATITIS C VIRUS SUSCEPTIBILITY TO HEPATITIS FULMINANT VIRAL SUSCEPTIBILITY TO Hepatocellular Carcinoma Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoerythropoietic porphyria Hereditary 125-dihydroxyvitamin D-resistant rickets Hereditary angioedema type 1 Hereditary angioedema type 2 Hereditary arterial and articular multiple calcification syndrome Hereditary breast and ovarian cancer syndrome Hereditary breast cancer Hereditary central diabetes insipidus Hereditary chronic pancreatitis Hereditary clear cell renal cell carcinoma Hereditary combined deficiency of vitamin K-dependent clotting factors Hereditary continuous muscle fiber activity Hereditary coproporphyria Hereditary cryohydrocytosis with normal stomatin Hereditary cryohydrocytosis with reduced stomatin Hereditary diffuse gastric cancer Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary elliptocytosis Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary ... Hereditary folate malabsorption Hereditary fructose intolerance Hereditary gingival fibromatosis HEREDITARY HEMORRHAGIC TELANGIECTASIA Hereditary hypercarotenemia and vitamin A deficiency Hereditary hyperekplexia HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypotrichosis with recurrent skin vesicles Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary isolated aplastic anemia Hereditary late-onset Parkinson disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Hereditary methemoglobinemia Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy Okinawa type Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE IIC HEREDITARY MULTIPLE EXOSTOSES TYPE 1 Hereditary Myopathy with Early Respiratory Failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neuroendocrine tumor of small intestine Hereditary neuropathy with liability to pressure palsies Hereditary neutrophilia Hereditary North American Indian childhood cirrhosis Hereditary orotic aciduria Hereditary palmoplantar keratoderma Gamborg-Nielsen type Hereditary papillary renal cell carcinoma Hereditary pediatric Behcet-like disease Hereditary persistence of alpha-fetoprotein Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary pheochromocytoma-paraganglioma Hereditary pulmonary alveolar proteinosis Hereditary renal hypouricemia Hereditary retinoblastoma Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 8 Hereditary sensory and autonomic neuropathy type VIII Hereditary sensory neuropathy-deafness-dementia syndrome Hereditary site-specific ovarian cancer syndrome Hereditary Spastic Paraparesis Hereditary Spastic Paraplegia Hereditary spherocytosis Hereditary thrombocytopenia with early-onset myelofibrosis Hereditary thrombophilia due to congenital antithrombin deficiency Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein ... Heritable pulmonary arterial hypertension Hermansky-Pudlak Syndrome HERMANSKY-PUDLAK SYNDROME 1 Hermansky-Pudlak Syndrome 10 HERMANSKY-PUDLAK SYNDROME 2 HERMANSKY-PUDLAK SYNDROME 3 HERMANSKY-PUDLAK SYNDROME 4 Hermansky-Pudlak syndrome 5 HERMANSKY-PUDLAK SYNDROME 6 HERMANSKY-PUDLAK SYNDROME 7 HERMANSKY-PUDLAK SYNDROME 8 Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Herpes simplex virus encephalitis HESX1-Related Combined Pituitary Hormone Deficiency Heterotaxy Syndrome HETEROTAXY VISCERAL 1 X-LINKED HETEROTAXY VISCERAL 2 AUTOSOMAL HETEROTAXY VISCERAL 4 AUTOSOMAL HETEROTAXY VISCERAL 5 AUTOSOMAL HETEROTAXY VISCERAL 6 AUTOSOMAL HETEROTAXY VISCERAL 7 AUTOSOMAL HETEROTAXY VISCERAL 8 AUTOSOMAL HETEROTAXY VISCERAL 9 AUTOSOMAL WITH MALE INFERTILITY HEYN-SPROUL-JACKSON SYNDROME HIBCH deficiency Hidrotic ectodermal dysplasia High bone mass osteogenesis imperfecta HIGH BONE MASS TRAIT HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY High myopia-sensorineural deafness syndrome Hip dysplasia beukes type HIRA-related neurodevelopmental disorder Hirschprung disease with intestinal pseudo-obstruction Hirschsprung disease HIRSCHSPRUNG DISEASE CARDIAC DEFECTS AND AUTONOMIC DYSFUNCTION HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 1 HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2 HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 3 HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 4 Hirschsprung disease-ganglioneuroblastoma syndrome HIST1H2AC-related developmental disorder monoallelic HIST1H4C HISTIDINEMIA Histiocytoid cardiomyopathy HISTIOCYTOMA ANGIOMATOID FIBROUS HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME HIVEP2 associated syndromic developmental delay with intellectual disability HK1-related developmental disorder monoallelic HNF1B-related autosomal dominant tubulointerstitial kidney disease HNF4A-Related Maturity-Onset Diabetes of the Young Type 1 HNRNPD-related developmental disorder monoallelic HNRNPDL-related limb-girdle muscular dystrophy D3 HNRNPH1-related neurodevelopmental disorder Holmes-Gang syndrome HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Holoprosencephaly Holoprosencephaly 11 HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS HOLOPROSENCEPHALY 13 X-LINKED HOLOPROSENCEPHALY 2 HOLOPROSENCEPHALY 3 HOLOPROSENCEPHALY 4 HOLOPROSENCEPHALY 5 HOLOPROSENCEPHALY 7 HOLOPROSENCEPHALY 9 HOLOPROSENCEPHALY TYPE 3 HOLOPROSENCEPHALY-7 HOLT-ORAM SYNDROME Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at ... HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY HOMOCYSTINURIA DUE TO DEFICIENCY OF N(510)-METHYLENETETRAHYDROFOLATEREDUCTASE ... Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria-megaloblastic anemia cbl E type HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblE COMPLEMENTATION TYPE HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA cblG COMPLEMENTATION TYPE Homozygous familial hypercholesterolemia Horizontal gaze palsy with progressive scoliosis Hot water reflex epilepsy HOYERAAL-HREIDARSSON SYNDROME HPDL Neurodegenerative Disease HS2ST1-related Developmental Disorder HSD10 disease atypical type HSD10 disease infantile type HSD10 disease neonatal type HSD10 MITOCHONDRIAL DISEASE HTRA1-related autosomal dominant cerebral small vessel disease HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 SUSCEPTIBILITY TO human piebaldism HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY HUNTINGTON DISEASE HUNTINGTON DISEASE-LIKE 1 HUNTINGTON DISEASE-LIKE 2 Huntington disease-like syndrome due to C9ORF72 expansions Huriez syndrome HURLER SYNDROME HURLER-SCHEIE SYNDROME HUTCHINSON-GILFORD PROGERIA SYNDROME Hyaline body myopathy HYALINE FIBROMATOSIS SYNDROME Hyaluronidase deficiency HYDATIDIFORM MOLE RECURRENT 1 HYDATIDIFORM MOLE RECURRENT 2 HYDATIDIFORM MOLE RECURRENT 3 HYDATIDIFORM MOLE RECURRENT 4 Hydranencephaly HYDROCEPHALUS CONGENITAL 1 HYDROCEPHALUS CONGENITAL 2 WITH OR WITHOUT BRAIN OR EYE ANOMALIES HYDROCEPHALUS CONGENITAL 3 WITH BRAIN ANOMALIES HYDROCEPHALUS CONGENITAL COMMUNICATING 1 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE HYDROCEPHALUS NONSYNDROMIC AUTOSOMAL RECESSIVE 2 HYDROCEPHALUS NORMAL-PRESSURE 1 Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrolethalus HYDROLETHALUS SYNDROME 1 HYDROLETHALUS SYNDROME 2 HYDROLETHALUS SYNDROME TYPE 1 HYDROPS LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY Hydroxykynureninuria HYPER-IgD SYNDROME HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT HYPER-IgE RECURRENT INFECTION SYNDROME 2 AUTOSOMAL RECESSIVE HYPER-IgE RECURRENT INFECTION SYNDROME 3 AUTOSOMAL RECESSIVE HYPER-IgE RECURRENT INFECTION SYNDROME 4 AUTOSOMAL RECESSIVE HYPER-IgE RECURRENT INFECTION SYNDROME 5 AUTOSOMAL RECESSIVE Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 5 Hyperaldosteronism familial type I Hyperaldosteronism familial type II HYPERALDOSTERONISM FAMILIAL TYPE III HYPERALDOSTERONISM FAMILIAL TYPE IV HYPERALPHALIPOPROTEINEMIA 1 Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency HYPERBILIRUBINEMIA ROTOR TYPE Hyperbilirubinemia transient familial neonatal HYPERBILIVERDINEMIA HYPERCALCEMIA INFANTILE 1 HYPERCALCEMIA INFANTILE 2 HYPERCALCIURIA ABSORPTIVE 2 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY AUTOSOMAL DOMINANT Hyperchlorhidrosis isolated HYPERCHOLANEMIA FAMILIAL Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency HYPERCHOLESTEROLEMIA FAMILIAL 1 HYPERCHOLESTEROLEMIA FAMILIAL 2 HYPERCHOLESTEROLEMIA FAMILIAL 3 HYPERCHOLESTEROLEMIA FAMILIAL 4 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperekplexia HYPEREKPLEXIA 1 HYPEREKPLEXIA 2 HYPEREKPLEXIA 3 HYPEREKPLEXIA 4 Hyperekplexia-epilepsy syndrome HYPEREOSINOPHILIC SYNDROME IDIOPATHIC HYPERFERRITINEMIA WITH OR WITHOUT CATARACT HYPERGLYCINEMIA LACTIC ACIDOSIS AND SEIZURES HYPERGLYCINURIA HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE Hyperimmunoglobulinemia D with periodic fever HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 1 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 2 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 3 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 4 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 5 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 6 HYPERINSULINEMIC HYPOGLYCEMIA FAMILIAL 7 Hyperinsulinism due to glucokinase deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinism-hyperammonemia syndrome HYPERKALEMIC PERIODIC PARALYSIS Hyperkalemic Periodic Paralysis Type 1 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency HYPERLIPIDEMIA FAMILIAL COMBINED 1 HYPERLIPIDEMIA FAMILIAL COMBINED 3 Hyperlipoproteinemia type I HYPERLIPOPROTEINEMIA TYPE ID HYPERLIPOPROTEINEMIA TYPE III HYPERLIPOPROTEINEMIA TYPE V HYPERLYSINEMIA HYPERLYSINEMIA TYPE I HYPERMANGANESEMIA WITH DYSTONIA 1 HYPERMANGANESEMIA WITH DYSTONIA 2 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HYPEROSTOSIS CORTICALIS GENERALISATA HYPEROSTOSIS CRANIALIS INTERNA Hyperoxaluria Primary Type 1 HYPEROXALURIA PRIMARY TYPE I HYPEROXALURIA PRIMARY TYPE II HYPEROXALURIA PRIMARY TYPE III HYPERPARATHYROIDISM 1 HYPERPARATHYROIDISM 2 WITH JAW TUMORS HYPERPARATHYROIDISM 4 HYPERPARATHYROIDISM NEONATAL SEVERE HYPERPARATHYROIDISM TRANSIENT NEONATAL HYPERPARATHYROIDISM-JAW TUMOR SYNDROME HYPERPHENYLALANINEMIA BH4-DEFICIENT A HYPERPHENYLALANINEMIA BH4-DEFICIENT B HYPERPHENYLALANINEMIA BH4-DEFICIENT C HYPERPHENYLALANINEMIA BH4-DEFICIENT D Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia Dystonia and Intellectual Disability HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT HYPERPHOSPHATASIA WITH MENTAL RETARDATION HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 Hyperphosphatasia with mental retardation syndrome 4 Hyperphosphatasia with mental retardation syndrome 5 Hyperphosphatasia with mental retardation syndrome 6 Hyperphosphatasia-intellectual disability syndrome HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION FAMILIAL PROGRESSIVE Hyperproinsulinemia HYPERPROLACTINEMIA Hyperprolinemia type 1 HYPERPROLINEMIA TYPE 2 HYPERPROLINEMIA TYPE I HYPERPROLINEMIA TYPE II HYPERTELORISM SEVERE WITH MIDFACE PROMINENCE MYOPIA MENTAL RETARDATION AND BONE ... Hypertelorism Teebi type HYPERTENSION AND BRACHYDACTYLY SYNDROME HYPERTENSION DIASTOLIC RESISTANCE TO HYPERTENSION EARLY-ONSET AUTOSOMAL DOMINANT WITH SEVERE EXACERBATIONIN PREGNANCY HYPERTENSION ESSENTIAL HYPERTHYROIDISM FAMILIAL GESTATIONAL HYPERTHYROIDISM NONAUTOIMMUNE HYPERTHYROXINEMIA DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA FAMILIAL DYSALBUMINEMIC HYPERTRICHOSIS CONGENITAL GENERALIZED WITH OR WITHOUT GINGIVALHYPERPLASIA Hypertrichosis-acromegaloid facial appearance syndrome Hypertrichotic osteochondrodysplasia Cantu type HYPERTRIGLYCERIDEMIA FAMILIAL HYPERTRIGLYCERIDEMIA TRANSIENT INFANTILE Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA ... HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 1 HYPERTROPHIC OSTEOARTHROPATHY PRIMARY AUTOSOMAL RECESSIVE 2 Hypertryptophanemia HYPERURICEMIA HPRT-RELATED HYPERURICEMIA PULMONARY HYPERTENSION RENAL FAILURE AND ALKALOSISSYNDROME Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 1 HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 2 HYPERURICEMIC NEPHROPATHY FAMILIAL JUVENILE 4 Hypervalinemia and hyperleucine-isoleucinemia Hyperzincemia and hypercalprotectinemia HYPOALPHALIPOPROTEINEMIA PRIMARY 1 HYPOALPHALIPOPROTEINEMIA PRIMARY 2 HYPOBETALIPOPROTEINEMIA FAMILIAL 1 HYPOBETALIPOPROTEINEMIA FAMILIAL 2 HYPOCALCEMIA AUTOSOMAL DOMINANT 1 Hypocalcemia autosomal dominant 2 Hypocalcemic vitamin D dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE I Hypocalciuric hypercalcemia familial type II HYPOCALCIURIC HYPERCALCEMIA FAMILIAL TYPE III Hypochondrogenesis HYPOCHONDROPLASIA Hypocomplementemic urticarial vasculitis Hypodontia-dysplasia of nails syndrome HYPOGLYCEMIA LEUCINE-INDUCED HYPOGONADOTROPIC HYPOGONADISM Hypogonadotropic hypogonadism 1 with or without anosmia Hypogonadotropic hypogonadism 10 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism 14 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism 16 with or without anosmia Hypogonadotropic hypogonadism 17 with or without anosmia Hypogonadotropic hypogonadism 18 with or without anosmia Hypogonadotropic hypogonadism 19 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism 20 with or without anosmia Hypogonadotropic hypogonadism 21 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism 7 with or without anosmia Hypogonadotropic hypogonadism 8 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA Hypogonadotropic hypogonadism with or without anosmia Hypohidrosis-electrolyte imbalance-lacrimal gland syndrome ... Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability ... Hypohidrotic ectodermal dysplasia with immunodeficiency Hypoinsulinemic hypoglycemia and body hemihypertrophy HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY Hypokalemic periodic paralysis HYPOKALEMIC PERIODIC PARALYSIS TYPE 1 HYPOKALEMIC PERIODIC PARALYSIS TYPE 2 HYPOMAGNESEMIA 1 INTESTINAL HYPOMAGNESEMIA 2 RENAL HYPOMAGNESEMIA 3 RENAL HYPOMAGNESEMIA 4 RENAL HYPOMAGNESEMIA 5 RENAL WITH OCULAR INVOLVEMENT HYPOMAGNESEMIA 5 RENAL WITH OR WITHOUT OCULAR INVOLVEMENT HYPOMAGNESEMIA 6 RENAL HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 2 Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomyelinating Leukodystrophy Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination with atrophy of basal ganglia and cerebellum HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-congenital cataract syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome HYPOPARATHYROIDISM FAMILIAL ISOLATED 1 HYPOPARATHYROIDISM FAMILIAL ISOLATED 2 HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS AND RENAL DISEASE HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME Hypoparathyroidism-sensorineural deafness-renal disease syndrome Hypophosphatasia HYPOPHOSPHATASIA ADULT HYPOPHOSPHATASIA CHILDHOOD HYPOPHOSPHATASIA INFANTILE Hypophosphatemic rickets AR HYPOPHOSPHATEMIC RICKETS AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 1 HYPOPHOSPHATEMIC RICKETS AUTOSOMAL RECESSIVE 2 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA HEREDITARY HYPOPHOSPHATEMIC RICKETS X-LINKED DOMINANT HYPOPHOSPHATEMIC RICKETS X-LINKED RECESSIVE HYPOPIGMENTATION ORGANOMEGALY AND DELAYED MYELINATION AND DEVELOPMENT Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypoplasminogenemia Hypoplastic amelogenesis imperfecta HYPOPLASTIC LEFT HEART SYNDROME HYPOPLASTIC LEFT HEART SYNDROME 1 HYPOPLASTIC LEFT HEART SYNDROME 2 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Hypoplastic tibiae-postaxial polydactyly syndrome Hypoprebetalipoproteinemia acanthocytosis retinitis pigmentosa and pallidal ... Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome HYPOSPADIAS 1 X-LINKED HYPOSPADIAS 2 X-LINKED Hypothryoidism congenital nongoitrous 4 HYPOTHYROIDISM CENTRAL WITH TESTICULAR ENLARGEMENT HYPOTHYROIDISM CONGENITAL NONGOITROUS 1 HYPOTHYROIDISM CONGENITAL NONGOITROUS 2 HYPOTHYROIDISM CONGENITAL NONGOITROUS 4 HYPOTHYROIDISM CONGENITAL NONGOITROUS 5 HYPOTHYROIDISM CONGENITAL NONGOITROUS 6 HYPOTHYROIDISM CONGENITAL NONGOITROUS 7 HYPOTHYROIDISM CONGENITAL NONGOITROUS 8 HYPOTHYROIDISM CONGENITAL NONGOITROUS 9 Hypothyroidism due to deficient transcription factors involved in pituitary or ... Hypothyroidism due to TSH receptor mutations HYPOTHYROIDISM THYROIDAL OR ATHYROIDAL WITH SPIKY HAIR AND CLEFTPALATE HYPOTONIA ATAXIA AND DELAYED DEVELOPMENT SYNDROME HYPOTONIA ATAXIA DEVELOPMENTAL DELAY AND TOOTH ENAMEL DEFECT SYNDROME HYPOTONIA HYPOVENTILATION IMPAIRED INTELLECTUAL DEVELOPMENT DYSAUTONOMIA AND ... HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES Hypotonia infantile with psychomotor retardation and characteristic facies 1 HYPOTONIA INFANTILE WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 Hypotonia infantile with psychomotor retardation and characteristic facies 3 Hypotonia with lactic acidemia and hyperammonemia HYPOTONIA-CYSTINURIA SYNDROME Hypotonia-speech impairment-severe cognitive delay syndrome HYPOTRICHOSIS 1 HYPOTRICHOSIS 11 Hypotrichosis 12 Hypotrichosis 13 HYPOTRICHOSIS 14 HYPOTRICHOSIS 2 HYPOTRICHOSIS 3 HYPOTRICHOSIS 4 HYPOTRICHOSIS 5 HYPOTRICHOSIS 6 HYPOTRICHOSIS 7 HYPOTRICHOSIS 8 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES HYPOTRICHOSIS CONGENITAL WITH JUVENILE MACULAR DYSTROPHY Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp 2 Hypotrichosis with juvenile macular degeneration HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME HYPOURICEMIA RENAL 1 HYPOURICEMIA RENAL 2 Hypoxanthine guanine phosphoribosyltransferase partial deficiency ICF syndrome ichthyosis autosomal recessive with hypotrichosis ICHTHYOSIS BULLOSA OF SIEMENS ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 1 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 10 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 11 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 12 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 13 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 14 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 2 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 3 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4A ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 4B ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 5 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 6 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 8 ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 9 ICHTHYOSIS CYCLIC WITH EPIDERMOLYTIC HYPERKERATOSIS Ichthyosis follicularis-alopecia-photophobia syndrome ICHTHYOSIS HYSTRIX CURTH-MACKLIN TYPE Ichthyosis hystrix of Curth-Macklin ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS Ichthyosis lamellar 4 ICHTHYOSIS LAMELLAR AUTOSOMAL DOMINANT ICHTHYOSIS LEUKOCYTE VACUOLES ALOPECIA AND SCLEROSING CHOLANGITIS ICHTHYOSIS PREMATURITY SYNDROME Ichthyosis spastic quadriplegia and mental retardation ICHTHYOSIS VULGARIS ICHTHYOSIS X-LINKED Ichthyosis-hypotrichosis syndrome Ichthyosis-short stature-brachydactyly-microspherophakia syndrome ICHTHYOTIC KERATODERMA SPASTICITY HYPOMYELINATION AND DYSMORPHIC FACIAL FEATURES Id macrocephaly and cerebellar hypoplasia Idiopathic achalasia Idiopathic aplastic anemia Idiopathic bronchiectasis Idiopathic CD4 lymphocytopenia Idiopathic central precocious puberty Idiopathic hypercalciuria Idiopathic juvenile osteoporosis Idiopathic pulmonary fibrosis Idiopathic ventricular fibrillation non Brugada type IFAP SYNDROME 1 WITH OR WITHOUT BRESHECK SYNDROME IFAP SYNDROME 2 IgA NEPHROPATHY SUSCEPTIBILITY TO 3 IgE RESPONSIVENESS ATOPIC IL21-related infantile inflammatory bowel disease IMAGAWA-MATSUMOTO SYNDROME IMAGe syndrome Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome 1 IMERSLUND-GRASBECK SYNDROME 2 IMINOGLYCINURIA IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections ... Immune dysregulation-inflammatory bowel disease-arthritis-recurrent syndrome ... Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune thrombocytopenia IMMUNODEFICIENCY 10 IMMUNODEFICIENCY 11 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS Immunodeficiency 12 Immunodeficiency 13 IMMUNODEFICIENCY 14 IMMUNODEFICIENCY 15A IMMUNODEFICIENCY 15B IMMUNODEFICIENCY 16 IMMUNODEFICIENCY 17 IMMUNODEFICIENCY 18 IMMUNODEFICIENCY 19 IMMUNODEFICIENCY 20 IMMUNODEFICIENCY 21 Immunodeficiency 22 IMMUNODEFICIENCY 23 IMMUNODEFICIENCY 24 IMMUNODEFICIENCY 25 Immunodeficiency 26 with or without neurologic abnormalities IMMUNODEFICIENCY 27A Immunodeficiency 27b IMMUNODEFICIENCY 28 Immunodeficiency 29 IMMUNODEFICIENCY 30 IMMUNODEFICIENCY 31A IMMUNODEFICIENCY 31B IMMUNODEFICIENCY 31C IMMUNODEFICIENCY 32A IMMUNODEFICIENCY 32B IMMUNODEFICIENCY 33 IMMUNODEFICIENCY 34 IMMUNODEFICIENCY 35 Immunodeficiency 36 IMMUNODEFICIENCY 37 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION IMMUNODEFICIENCY 39 IMMUNODEFICIENCY 40 IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY IMMUNODEFICIENCY 42 IMMUNODEFICIENCY 43 IMMUNODEFICIENCY 44 IMMUNODEFICIENCY 45 Immunodeficiency 46 IMMUNODEFICIENCY 47 IMMUNODEFICIENCY 48 IMMUNODEFICIENCY 49 IMMUNODEFICIENCY 50 IMMUNODEFICIENCY 51 IMMUNODEFICIENCY 52 IMMUNODEFICIENCY 53 IMMUNODEFICIENCY 54 IMMUNODEFICIENCY 55 IMMUNODEFICIENCY 56 IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION IMMUNODEFICIENCY 58 IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA IMMUNODEFICIENCY 60 IMMUNODEFICIENCY 61 IMMUNODEFICIENCY 62 IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY IMMUNODEFICIENCY 64 IMMUNODEFICIENCY 65 SUSCEPTIBILITY TO VIRAL INFECTIONS IMMUNODEFICIENCY 66 IMMUNODEFICIENCY 67 IMMUNODEFICIENCY 68 IMMUNODEFICIENCY 69 IMMUNODEFICIENCY 70 IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND ... IMMUNODEFICIENCY 74 COVID19-RELATED X-LINKED Immunodeficiency 8 IMMUNODEFICIENCY 9 Immunodeficiency by defective expression of MHC class I Immunodeficiency by defective expression of MHC class II IMMUNODEFICIENCY COMMON VARIABLE 1 IMMUNODEFICIENCY COMMON VARIABLE 10 IMMUNODEFICIENCY COMMON VARIABLE 11 Immunodeficiency common variable 12 IMMUNODEFICIENCY COMMON VARIABLE 13 IMMUNODEFICIENCY COMMON VARIABLE 14 IMMUNODEFICIENCY COMMON VARIABLE 2 IMMUNODEFICIENCY COMMON VARIABLE 3 IMMUNODEFICIENCY COMMON VARIABLE 4 IMMUNODEFICIENCY COMMON VARIABLE 5 IMMUNODEFICIENCY COMMON VARIABLE 6 IMMUNODEFICIENCY COMMON VARIABLE 7 IMMUNODEFICIENCY COMMON VARIABLE 8 WITH AUTOIMMUNITY IMMUNODEFICIENCY DEVELOPMENTAL DELAY AND HYPOHOMOCYSTEINEMIA Immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a late component of complement deficiency Immunodeficiency due to CD25 deficiency IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to MASP-2 deficiency IMMUNODEFICIENCY WITH CLEFT LIP/PALATE CATARACT HYPOPIGMENTATION AND ABSENT ... Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly IMMUNODEFICIENCY WITH HYPER-IgM TYPE 1 IMMUNODEFICIENCY WITH HYPER-IgM TYPE 2 IMMUNODEFICIENCY WITH HYPER-IgM TYPE 3 IMMUNODEFICIENCY WITH HYPER-IgM TYPE 5 Immunodeficiency X-Linked with magnesium defect Epstein-Barr virus infection ... IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 IMMUNODYSREGULATION POLYENDOCRINOPATHY AND ENTEROPATHY X-LINKED Immunoglobulin A deficiency 2 Immunoglobulin-mediated membranoproliferative glomerulonephritis IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES Impaired Cilia Orientation and Mucociliary Clearance IMPDH2 ENZYME ACTIVITY VARIATION IN INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT DEMENTIA ... Inclusion body myopathy with early-onset paget disease with or without dementia ... Inclusion body myopathy with early-onset paget disease with or without dementia ... Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Incontinentia pigmenti Increased analgesia from kappa-opioid receptor agonist female-specific Indifference to pain congenital autosomal recessive Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy Infant acute respiratory distress syndrome Infantile ataxia with oculomotor and pyramidal signs Infantile Bartter syndrome with sensorineural deafness INFANTILE CATARACT SKIN ABNORMALITIES GLUTAMATE EXCESS AND IMPAIRED DEVELOPMENT ... Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive ... Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum Infantile Epilepsy Cataracts and Profound Developmental Delay INFANTILE EPILEPTIC ENCEPHALOPATHY INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY Infantile epileptic-dyskinetic encephalopathy Infantile glycine encephalopathy Infantile hypertrophic cardiomyopathy and lactic acidosis Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy lactic acidosis and isolated complex I ... Infantile hypophosphatasia Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental ... Infantile inflammatory bowel disease with neurological involvement Infantile Krabbe disease INFANTILE LIVER FAILURE SYNDROME 1 INFANTILE LIVER FAILURE SYNDROME 2 INFANTILE LIVER FAILURE SYNDROME 3 Infantile multisystem neurologic-endocrine-pancreatic disease Infantile myofibromatosis Infantile nephronophthisis INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY Infantile nephropathic cystinosis Infantile neuroaxonal dystrophy Infantile neuroaxonal dystrophy 1 Infantile onset spinocerebellar ataxia Infantile osteopetrosis with neuroaxonal dysplasia Infantile Refsum disease INFANTILE SIALIC ACID STORAGE DISEASE Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ... INFANTILE STRIATONIGRAL DEGENERATION INFANTILE SYSTEMIC HYALINOSIS Infantile-onset ascending hereditary spastic paralysis Infantile-onset generalized dyskinesia with orofacial involvement Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infantile-onset periodic fever-panniculitis-dermatosis syndrome Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities infantile-onset severe developmental delay and skeletal dysplasia Infantile-onset X-linked spinal muscular atrophy INFECTIONS RECURRENT WITH ENCEPHALOPATHY HEPATIC DYSFUNCTION AND CARDIOVASCULAR ... INFLAMMATORY BOWEL DISEASE 13 INFLAMMATORY BOWEL DISEASE 14 INFLAMMATORY BOWEL DISEASE 17 INFLAMMATORY BOWEL DISEASE 25 AUTOSOMAL RECESSIVE INFLAMMATORY BOWEL DISEASE 28 AUTOSOMAL RECESSIVE INFLAMMATORY BOWEL DISEASE 29 INFLAMMATORY BOWEL DISEASE CROHN DISEASE 1 INFLAMMATORY BOWEL DISEASE CROHN DISEASE 10 INFLAMMATORY BOWEL DISEASE CROHN DISEASE 19 INFLAMMATORY BOWEL DISEASE CROHN DISEASE 30 INFLAMMATORY BOWEL DISEASE IMMUNODEFICIENCY AND ENCEPHALOPATHY Inflammatory bowel disease-recurrent sinopulmonary infections syndrome Inflammatory myofibroblastic tumor INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 1 INFLAMMATORY SKIN AND BOWEL DISEASE NEONATAL 2 INFLUENZA SEVERE SUSCEPTIBILITY TO Inherited acute myeloid leukemia Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic ... Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited Skin Fragility INOSINE TRIPHOSPHATASE DEFICIENCY INSENSITIVITY TO PAIN CONGENITAL WITH ANHIDROSIS INSULIN RECEPTOR SUBSTRATE 1 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE TO biallelic Insulin-resistance syndrome type A Insulinoma INSULINOMATOSIS AND DIABETES MELLITUS INTELLECTUAL DEVELOPMENTAL DISORDER 59 INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES INTELLECTUAL DEVELOPMENTAL DISORDER 61 INTELLECTUAL DEVELOPMENTAL DISORDER 62 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 44 WITH MICROCEPHALY INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT 63 WITH MACROCEPHALY INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 67 INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 68 INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 69 INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70 INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 71 INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 72 INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR MICROCEPHALY AND ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND WITH OR ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA Intellectual developmental disorder with cardiac defects and dysmorphic facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SEIZURES AND DISTAL ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY BEHAVIORAL ABNORMALITIES AND ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY SEIZURES AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH DYSMORPHIC FACIES AND ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT OR ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE FACIALANOMALIES AND ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AUTISM AND DYSMORPHIC ... INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY DYSMORPHIC FACIES AND ... INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED 108 INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC ARMFIELD TYPE INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC HACKMANN-DI DONATO TYPE INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC LUJAN-FRYNS TYPE INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC RAYMOND TYPE INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC SNIJDERS BLOK TYPE INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYNDROMIC WU TYPE Intellectual disability Intellectual Disability Accompanied by Epilepsy and Autistic Features Intellectual Disability and Central Nervous System anomalies Intellectual disability and epilepsy Intellectual disability and iris abnormalities Intellectual Disability Ataxia and Facial Dysmorphism Intellectual disability Birk-Barel type Intellectual Disability Central Nervous System anomalies and Scoliosis Intellectual Disability Central Nervous System anomalies and Seizures Intellectual Disability Congenital Malformations and Failure to Thrive Intellectual Disability Developmental Delay and Short Stature Intellectual disability encephalopathy impaired GPI-anchor maturation Intellectual Disability Seizures Abnormal Gait and Distinctive Facial Features Intellectual Disability Syndrome Associated with Seizures and Dysmorphic ... Intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability with ataxia/spasticity Intellectual disability with autism spectrum disorder Intellectual Disability with Cerebellar Atrophy Intellectual disability with epilepsy Intellectual disability with facial dysmorphism Intellectual Disability with or without Epileptic Encephalopathy Intellectual Disability with or without Epileptic Encephalopathy activating Intellectual disability with pigmentary mosaicism and storage disorder Intellectual Disability with Seizures Intellectual Disability with Seizures and Hypotonia Intellectual Disability with Speech Delay Microcephaly Short Stature and ... Intellectual Disability with Variable Brain Anomalies Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual disability-epilepsy-extrapyramidal syndrome Intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 ... Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies ... Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-strabismus syndrome Intellectual disabiltiy INTERLEUKIN 6 SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS Intermediate DEND syndrome Intermediate epidermolysis bullosa simplex with cardiomyopathy Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermittent hydrarthrosis Intermittent maple syrup urine disease INTERSTITIAL LUNG AND LIVER DISEASE Interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to SP-C deficiency Interstitial lung disease nephrotic syndrome and epidermolysis bullosa ... INTERSTITIAL NEPHRITIS KARYOMEGALIC INTERVERTEBRAL DISC DISEASE INTESTINAL ATRESIA MULTIPLE Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal pseudoobstruction neuronal chronic idiopathic X-linked INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Intrahepatic cholestasis of pregnancy Intraosseous Vascular Malformation Intrauterine growth restriction-short stature-early adult-onset diabetes ... Intrauterine growth retardation metaphyseal dysplasia adrenal hypoplasia and ... INTRAUTERINE GROWTH RETARDATION METAPHYSEAL DYSPLASIA ADRENAL HYPOPLASIA AND ... Intravascular large B-cell lymphoma INTRINSIC FACTOR DEFICIENCY IPEX Syndrome IRIDA syndrome IRON-REFRACTORY IRON DEFICIENCY ANEMIA Ischio-vertebral syndrome ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIALHYPERTENSION ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Isolated anencephaly Isolated aniridia Isolated Arhinia/Bosma Arhinia syndrome Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated autosomal dominant hypomagnesemia Glaudemans type Isolated Biliary atresia Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cleft lip Isolated cloverleaf skull syndrome Isolated complex I deficiency Isolated complex III deficiency Isolated congenital adermatoglyphia Isolated congenital anosmia Isolated congenital breast hypoplasia/aplasia Isolated congenital digital clubbing Isolated congenital megalocornea Isolated congenital sclerocornea Isolated congenitally uncorrected transposition of the great arteries Isolated cytochrome C oxidase deficiency Isolated Dandy-Walker malformation Isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus Isolated delta-storage pool disease ISOLATED ECTOPIA LENTIS Isolated exencephaly Isolated focal cortical dysplasia type Ia Isolated focal cortical dysplasia type IIa Isolated focal cortical dysplasia type IIb Isolated focal non-epidermolytic palmoplantar keratoderma Isolated follicle-stimulating hormone deficiency Isolated generalized anhidrosis with normal sweat glands Isolated growth hormone deficiency type IA ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Isolated growth hormone deficiency type II ISOLATED GROWTH HORMONE DEFICIENCY TYPE III WITH AGAMMAGLOBULINEMIA ISOLATED GROWTH HORMONE DEFICIENCY TYPE IV ISOLATED GROWTH HORMONE DEFICIENCY TYPE V Isolated hemihyperplasia Isolated hyperchlorhidrosis Isolated Klippel-Feil syndrome Isolated megalencephaly Isolated microphthalmia-anophthalmia-coloboma Isolated neonatal sclerosing cholangitis Isolated Nonsyndromic Patent Ductus Arteriosus. Isolated optic nerve hypoplasia/aplasia Isolated osteopoikilosis Isolated oxycephaly Isolated Pierre Robin syndrome Isolated plagiocephaly Isolated polycystic liver disease Isolated scaphocephaly Isolated sedoheptulokinase deficiency Isolated split hand-split foot malformation Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Isolated thyroid-stimulating hormone deficiency Isolated thyrotropin-releasing hormone deficiency Isolated trigonocephaly ISOVALERIC ACIDEMIA ISPD-related limb-girdle muscular dystrophy R20 ITPA-related lethal infantile neurological disorder with cataract and cardiac ... IVIC SYNDROME JABERI-ELAHI SYNDROME JACKSON-WEISS SYNDROME Jacobsen syndrome JALILI SYNDROME JANSEN METAPHYSEAL CHONDRODYSPLASIA JANSEN-DE VRIES SYNDROME JARID2-related Neurodevelopmental Disorder JAWAD SYNDROME JENSEN SYNDROME Jervell and Lange-Nielsen syndrome JERVELL AND LANGE-NIELSEN SYNDROME 1 JERVELL AND LANGE-NIELSEN SYNDROME 2 Jervell and Lange-Nielsen syndrome type 1 Jervell and Lange-Nielsen syndrome type 2 Jeune syndrome JOHANSON-BLIZZARD SYNDROME JOINT LAXITY SHORT STATURE AND MYOPIA Joubert Syndrome JOUBERT SYNDROME 1 JOUBERT SYNDROME 10 JOUBERT SYNDROME 13 JOUBERT SYNDROME 14 Joubert syndrome 15 JOUBERT SYNDROME 16 JOUBERT SYNDROME 17 JOUBERT SYNDROME 18 Joubert syndrome 2 JOUBERT SYNDROME 20 JOUBERT SYNDROME 21 Joubert syndrome 22 Joubert syndrome 23 Joubert syndrome 24 Joubert syndrome 25 Joubert syndrome 26 JOUBERT SYNDROME 27 JOUBERT SYNDROME 28 JOUBERT SYNDROME 3 Joubert syndrome 30 JOUBERT SYNDROME 31 JOUBERT SYNDROME 32 JOUBERT SYNDROME 33 JOUBERT SYNDROME 35 JOUBERT SYNDROME 36 JOUBERT SYNDROME 4 JOUBERT SYNDROME 5 JOUBERT SYNDROME 6 JOUBERT SYNDROME 7 JOUBERT SYNDROME 8 JOUBERT SYNDROME 9 Joubert Syndrome and Related Disorders JOUBERT SYNDROME TYPE 1 JOUBERT SYNDROME TYPE 10 JOUBERT SYNDROME TYPE 5 Joubert Syndrome with Cranio-facial and Skeletal Defects Joubert syndrome with hepatic defect Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with ocular defect Joubert syndrome with oculorenal defect Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy Joubert syndrome with renal defect Juberg-Marsidi syndrome Junctional epidermolysis bullosa generalized intermediate Junctional epidermolysis bullosa generalized severe Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa with respiratory and renal involvement Junctional epidermolysis bullosa-pyloric atresia syndrome Juvenile absence epilepsy Juvenile amyotrophic lateral sclerosis JUVENILE ARTHRITIS Juvenile cataract-microcornea-renal glucosuria syndrome Juvenile glaucoma Juvenile Huntington disease JUVENILE HYALINE FIBROMATOSIS Juvenile myelomonocytic leukemia Juvenile myoclonic epilepsy Juvenile nephronophthisis Juvenile nephropathic cystinosis Juvenile or adult CACH syndrome Juvenile Paget disease Juvenile polyposis of infancy Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile primary lateral sclerosis Juvenile sialidosis type 2 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration ... Kabuki syndrome KABUKI SYNDROME 1 KABUKI SYNDROME 2 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 KAHRIZI SYNDROME KALLIKREIN DECREASED URINARY ACTIVITY OF Kallmann Syndrome KANZAKI DISEASE KAPOSI SARCOMA SUSCEPTIBILITY TO Kaposiform hemangioendothelioma Karyomegalic interstitial nephritis KAT5-related Neurodevelopmental Syndrome KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS KAUFMAN OCULOCEREBROFACIAL SYNDROME KBG syndrome KCN4 related abnormal striatum congenital cataract and intellectual disability. KCND3-related developmental disorder monoallelic KCNK3-related developmental disorder monoallelic KCNQ2-related epileptic encephalopathy KCNQ3 syndrome KDELR2-related Osteogenesis Imperfecta KDM4B-related Developmental Disorder KDM6B-related developmental disorder monoallelic KEARNS-SAYRE SYNDROME Keipert syndrome Kennedy disease KENNY-CAFFEY SYNDROME Kenny-Caffey syndrome type 1 Kenny-Caffey syndrome type 2 Keppen-Lubinsky syndrome KERATITIS HEREDITARY KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL DOMINANT KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME AUTOSOMAL RECESSIVE KERATOCONUS 1 KERATOCONUS 9 KERATOCONUS WITH CATARACT Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis KERATODERMA PALMOPLANTAR WITH DEAFNESS KERATOENDOTHELIITIS FUGAX HEREDITARIA Keratolytic winter erythema Keratosis follicularis spinulosa decalvans KERATOSIS FOLLICULARIS SPINULOSA DECALVANS X-LINKED KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome KERATOSIS PALMOPLANTARIS STRIATA II KERATOSIS PALMOPLANTARIS STRIATA III KERATOSIS PILARIS ATROPHICANS KERATOSIS SEBORRHEIC Ketoacidosis due to monocarboxylate transporter-1 deficiency Keutel syndrome KHAN-KHAN-KATSANIS SYNDROME KIAA2022 KID syndrome KIDINS220-related Developmental Disorder biallelic KIF3B-related ciliopathy KILQUIST SYNDROME Kindler epidermolysis bullosa KINDLER SYNDROME King Denborough syndrome Kleefstra syndrome KLEEFSTRA SYNDROME 1 KLEEFSTRA SYNDROME 2 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation KLF7-related developmental disorder KLHL9-related early-onset distal myopathy Klippel-Feil Anomaly Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome KLIPPEL-FEIL SYNDROME 1 AUTOSOMAL DOMINANT KLIPPEL-FEIL SYNDROME 2 AUTOSOMAL RECESSIVE KLIPPEL-FEIL SYNDROME 3 AUTOSOMAL DOMINANT KLIPPEL-FEIL SYNDROME 4 AUTOSOMAL RECESSIVE WITH NEMALINE MYOPATHY AND FACIAL ... Klippel-Trenaunay syndrome KMT2D multiple malformations disorder KMT5B syndrome KNIEST DYSPLASIA Knobloch syndrome KNOBLOCH SYNDROME 1 Knobloch Syndrome Type I KNOPS BLOOD GROUP SYSTEM Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis ... Kohlschutter-Tonz Syndrome Koolen-de Vries syndrome Koolen-De Vries syndrome due to a point mutation Kosaki overgrowth syndrome Kostmann syndrome KOWARSKI SYNDROME KRABBE DISEASE KRABBE DISEASE ATYPICAL DUE TO SAPOSIN A DEFICIENCY KRT1-related diffuse nonepidermolytic keratoderma KUFOR-RAKEB SYNDROME Kuru KURU SUSCEPTIBILITY TO Kuskokwim syndrome Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome L-2-HYDROXYGLUTARIC ACIDURIA L-Arginine:glycine amidinotransferase deficiency L-FERRITIN DEFICIENCY Lacrimal duct defect LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME LACRIMOAURICULODENTODIGITAL SYNDROME LACTASE DEFICIENCY CONGENITAL LACTATE DEHYDROGENASE B DEFICIENCY Lacticacidemia due to PDX1 deficiency LACTOSE INTOLERANCE ADULT TYPE LADD SYNDROME Lafora disease Laing early-onset distal myopathy LAMA5-related multisystemic syndrome Lamb-shaffer syndrome Lamellar ichthyosis Laminin subunit alpha 2-related congenital muscular dystrophy Landau-Kleffner syndrome LANGER MESOMELIC DYSPLASIA Langerhans cell histiocytosis LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE WITH OR ... Large congenital melanocytic nevus LARON SYNDROME Laron syndrome with immunodeficiency LARSEN SYNDROME Larsen-like syndrome B3GAT3 type LARYNGOONYCHOCUTANEOUS SYNDROME Late infantile CACH syndrome Late-infantile/juvenile Krabbe disease Late-onset distal myopathy Markesbery-Griggs type Late-onset junctional epidermolysis bullosa Late-onset nephronophthisis Late-onset retinal degeneration Lateral meningocele syndrome Laterality defects LATHOSTEROLOSIS Lattice corneal dystrophy Type I Laurence-Moon syndrome Laurin-Sandrow syndrome Leber congenital amaurosis LEBER CONGENITAL AMAUROSIS 1 LEBER CONGENITAL AMAUROSIS 10 LEBER CONGENITAL AMAUROSIS 11 LEBER CONGENITAL AMAUROSIS 12 LEBER CONGENITAL AMAUROSIS 13 LEBER CONGENITAL AMAUROSIS 14 LEBER CONGENITAL AMAUROSIS 15 LEBER CONGENITAL AMAUROSIS 16 Leber congenital amaurosis 17 LEBER CONGENITAL AMAUROSIS 19 Leber congenital amaurosis 2 LEBER CONGENITAL AMAUROSIS 3 LEBER CONGENITAL AMAUROSIS 4 LEBER CONGENITAL AMAUROSIS 5 LEBER CONGENITAL AMAUROSIS 6 LEBER CONGENITAL AMAUROSIS 7 LEBER CONGENITAL AMAUROSIS 8 LEBER CONGENITAL AMAUROSIS 9 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS Leber hereditary optic neuropathy LEBER OPTIC ATROPHY Leber plus disease LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Left ventricular noncompaction LEFT VENTRICULAR NONCOMPACTION 1 Left ventricular noncompaction 10 LEFT VENTRICULAR NONCOMPACTION 7 LEFT VENTRICULAR NONCOMPACTION 8 LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION Legg-Calve-Perthes disease LEGIONNAIRE DISEASE SUSCEPTIBILITY TO LEGIUS SYNDROME Leigh syndrome LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY LEIGH SYNDROME DUP LEIGH SYNDROME FRENCH CANADIAN TYPE Leigh syndrome with cardiomyopathy Leigh Syndrome with Instability of the Small Mitoribosomal Subunit Leigh syndrome with leukodystrophy Leigh syndrome with nephrotic syndrome Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate ... Lennox-Gastaut syndrome Lenz-Majewski hyperostotic dwarfism LEOPARD syndrome 1 LEOPARD SYNDROME 2 LEOPARD SYNDROME 3 LEOPARD syndrome type 1 Leprechaunism LEPROSY SUSCEPTIBILITY TO 3 LEPROSY SUSCEPTIBILITY TO 4 LEPROSY SUSCEPTIBILITY TO 5 LEPTIN DEFICIENCY OR DYSFUNCTION LEPTIN RECEPTOR DEFICIENCY Leri-Weill dyschondrosteosis LESCH-NYHAN SYNDROME LESSEL-KUBISCH SYNDROME Lethal acantholytic erosive disorder Lethal arteriopathy syndrome due to Fibulin-4 deficiency Lethal arthroogryposis Lethal ataxia with deafness and optic atrophy Lethal brain and heart developmental defects LETHAL CONGENITAL CONTRACTURE SYNDROME 1 LETHAL CONGENITAL CONTRACTURE SYNDROME 10 LETHAL CONGENITAL CONTRACTURE SYNDROME 11 LETHAL CONGENITAL CONTRACTURE SYNDROME 2 LETHAL CONGENITAL CONTRACTURE SYNDROME 3 LETHAL CONGENITAL CONTRACTURE SYNDROME 4 Lethal congenital contracture syndrome 5 Lethal congenital contracture syndrome 6 LETHAL CONGENITAL CONTRACTURE SYNDROME 7 LETHAL CONGENITAL CONTRACTURE SYNDROME 8 LETHAL CONGENITAL CONTRACTURE SYNDROME 9 Lethal congenital contracture syndrome type 1 lethal congenital contracture syndrome type 2 lethal congenital contracture syndrome type 3 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia ... Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome Lethal Infantile Epileptic Encephalopathy Lethal infantile mitochondrial myopathy Lethal intrauterine growth restriction-cortical malformation-congenital ... Lethal left ventricular delay syndrome ... Lethal multiple pterygium syndrome Lethal neonatal rigidity and seizure syndrome Lethal neonatal spasticity-epileptic encephalopathy syndrome Lethal Neurometabolic Disorder of Early Childhood Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal osteosclerotic bone dysplasia Lethal polymalformative syndrome Boissel type Lethal Restrictive Dermopathy ZMPSTE24-Related Letrozole toxicity LEUKEMIA ACUTE LYMPHOBLASTIC Leukemia acute lymphoblastic susceptibility to 3 LEUKEMIA ACUTE MYELOID LEUKEMIA CHRONIC MYELOID Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA LEUKODYSTROPHY DEMYELINATING ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY HYPOMYELINATING 10 LEUKODYSTROPHY HYPOMYELINATING 11 Leukodystrophy hypomyelinating 12 LEUKODYSTROPHY HYPOMYELINATING 13 LEUKODYSTROPHY HYPOMYELINATING 14 LEUKODYSTROPHY HYPOMYELINATING 15 LEUKODYSTROPHY HYPOMYELINATING 16 LEUKODYSTROPHY HYPOMYELINATING 17 LEUKODYSTROPHY HYPOMYELINATING 18 LEUKODYSTROPHY HYPOMYELINATING 19 TRANSIENT INFANTILE LEUKODYSTROPHY HYPOMYELINATING 2 LEUKODYSTROPHY HYPOMYELINATING 20 LEUKODYSTROPHY HYPOMYELINATING 3 LEUKODYSTROPHY HYPOMYELINATING 4 LEUKODYSTROPHY HYPOMYELINATING 5 LEUKODYSTROPHY HYPOMYELINATING 6 LEUKODYSTROPHY HYPOMYELINATING 7 WITH OR WITHOUT OLIGODONTIAAND/OR HYPOGONADISM ... LEUKODYSTROPHY HYPOMYELINATING 8 WITH OR WITHOUT OLIGODONTIAAND/OR HYPOGONADISM ... LEUKODYSTROPHY HYPOMYELINATING 9 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 LEUKODYSTROPHY HYPOMYELINATING TYPE 4 LEUKODYSTROPHY HYPOMYELINATING TYPE 5 LEUKODYSTROPHY PROGRESSIVE EARLY CHILDHOOD-ONSET LEUKOENCEPHALOPATHY ACUTE REVERSIBLE WITH INCREASED URINARY ALPHA-KETOGLUTARATE LEUKOENCEPHALOPATHY BRAIN CALCIFICATIONS AND CYSTS LEUKOENCEPHALOPATHY CYSTIC WITHOUT MEGALENCEPHALY LEUKOENCEPHALOPATHY DEVELOPMENTAL DELAY AND EPISODIC NEUROLOGIC REGRESSION ... LEUKOENCEPHALOPATHY HEREDITARY DIFFUSE WITH SPHEROIDS LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS LEUKOENCEPHALOPATHY MOTOR DELAY SPASTICITY AND DYSARTHRIA SYNDROME LEUKOENCEPHALOPATHY PROGRESSIVE WITH OVARIAN FAILURE LEUKOENCEPHALOPATHY WITH ATAXIA Leukoencephalopathy with brain stem and spinal cord involvement-high lactate ... LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ... Leukoencephalopathy with calcifications and cysts Leukoencephalopathy with cerebral calcification and cysts LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Leukoencephalopathy with mild cerebellar ataxia and white matter edema LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER Leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukonychia totalis LEUKOTRIENE C4 SYNTHASE DEFICIENCY Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to partial LH resistance LEYDIG CELL HYPOPLASIA TYPE I LHERMITTE-DUCLOS DISEASE LHX4-Related Combined Pituitary Hormone Deficiency Li-Fraumeni syndrome LI-FRAUMENI SYNDROME 2 LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME LIANG-WANG SYNDROME LIBERFARB SYNDROME Lichtenstein-Knorr syndrome LIDDLE SYNDROME LIDDLE SYNDROME 1 LIDDLE SYNDROME 2 LIDDLE SYNDROME 3 LIEBENBERG SYNDROME LIG4 SYNDROME Limb-girdle muscular dystrophy due to POMK deficiency LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L LIMB-MAMMARY SYNDROME Limbic encephalitis with LGI1 antibodies Limited cutaneous systemic sclerosis Limited systemic sclerosis LIMS2-related limb-girdle muscular dystrophy Linear nevus sebaceus syndrome LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 LINGO1 related intellectual disability with microcephaly speech and motor delay Lipase deficiency combined LIPE-related familial partial lipodystrophy LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 1 LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 2 LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 3 LIPODYSTROPHY CONGENITAL GENERALIZED TYPE 4 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 2 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 3 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 4 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 5 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 6 LIPODYSTROPHY FAMILIAL PARTIAL TYPE 7 LIPODYSTROPHY PARTIAL ACQUIRED SUSCEPTIBILITY TO Lipoic acid synthetase deficiency LIPOID CONGENITAL ADRENAL HYPERPLASIA Lipoid proteinosis LIPOID PROTEINOSIS OF URBACH AND WIETHE LIPOPROTEIN GLOMERULOPATHY LIPOPROTEINa QUANTITATIVE TRAIT LOCUS Lipoyl transferase 2 deficiency LIPOYLTRANSFERASE 1 DEFICIENCY LISSENCEPHALY 1 LISSENCEPHALY 10 Lissencephaly 2 LISSENCEPHALY 3 Lissencephaly 4 LISSENCEPHALY 5 Lissencephaly 6 with microcephaly LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA LISSENCEPHALY 8 LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly Subcortical Heterotopia and Global Developmental Delay Lissencephaly syndrome Norman-Roberts type LISSENCEPHALY TYPE 1 Lissencephaly type 1 due to doublecortin gene mutation LISSENCEPHALY TYPE 3 LISSENCEPHALY X-LINKED 1 LISSENCEPHALY X-LINKED 2 LISSENCEPHALY X-LINKED TYPE 1 LIVER FAILURE INFANTILE TRANSIENT LMNA-related cardiocutaneous progeria syndrome LMNB1-associated developmental disorder LMNB2-related Primary Microcephaly Lobar holoprosencephaly LOC syndrome Localized epidermolysis bullosa simplex Localized junctional epidermolysis bullosa non-Herlitz type Loeys-Dietz syndrome LOEYS-DIETZ SYNDROME 1 LOEYS-DIETZ SYNDROME 2 LOEYS-DIETZ SYNDROME 3 LOEYS-DIETZ SYNDROME 4 LOEYS-DIETZ SYNDROME 5 LOEYS-DIETZ SYNDROME TYPE 4 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency LONG QT SYNDROME 1 LONG QT SYNDROME 10 LONG QT SYNDROME 11 LONG QT SYNDROME 12 Long QT syndrome 13 LONG QT SYNDROME 14 LONG QT SYNDROME 15 LONG QT SYNDROME 16 LONG QT SYNDROME 2 LONG QT SYNDROME 3 LONG QT SYNDROME 5 LONG QT SYNDROME 6 Long QT syndrome 8 LONG QT SYNDROME 9 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY LOPES-MACIEL-RODAN SYNDROME Low density lipoprotein cholesterol level quantitative trait locus 6 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 Low isolated anorectal malformation Low phospholipid associated cholelithiasis LOWE OCULOCEREBRORENAL SYNDROME Lower motor neuron syndrome with late-adult onset LOWER URINARY TRACT OBSTRUCTION CONGENITAL Lowry-Wood syndrome LRP5-related primary osteoporosis LUBS X-LINKED MENTAL RETARDATION SYNDROME LUJAN-FRYNS SYNDROME Lumbosacral spina bifida aperta Lumbosacral spina bifida cystica LUNG DISEASE IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME LUSCAN-LUMISH SYNDROME LUTHERAN NULL LYMPHANGIOLEIOMYOMATOSIS LYMPHATIC MALFORMATION 1 LYMPHATIC MALFORMATION 3 LYMPHATIC MALFORMATION 4 LYMPHATIC MALFORMATION 6 LYMPHATIC MALFORMATION 7 LYMPHATIC MALFORMATION 8 Lymphedema hereditary ic LYMPHEDEMA PRIMARY WITH MYELODYSPLASIA LYMPHEDEMA-DISTICHIASIS SYNDROME Lymphedema-posterior choanal atresia syndrome LYMPHOID ENHANCER-BINDING FACTOR 1 LYMPHOMA HODGKIN CLASSIC LYMPHOMA MUCOSA-ASSOCIATED LYMPHOID TYPE Lymphomatoid papulosis LYMPHOPROLIFERATIVE SYNDROME 1 LYMPHOPROLIFERATIVE SYNDROME 2 LYMPHOPROLIFERATIVE SYNDROME 3 LYMPHOPROLIFERATIVE SYNDROME X-LINKED 1 LYMPHOPROLIFERATIVE SYNDROME X-LINKED 2 Lynch syndrome Lynch syndrome I LYSINURIC PROTEIN INTOLERANCE Lysosomal acid lipase deficiency LYSOSOMAL ALPHA-MANNOSIDOSIS LYSOSOMAL BETA-MANNOSIDOSIS LYSYL HYDROXYLASE 3 DEFICIENCY MACHADO-JOSEPH DISEASE Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT MACROCEPHALY ALOPECIA CUTIS LAXA AND SCOLIOSIS TALL FOREHEAD SPARSE HAIR SKIN ... Macrocephaly and impaired speech and language MACROCEPHALY DYSMORPHIC FACIES AND PSYCHOMOTOR RETARDATION Macrocephaly macrosomia facial dysmorphism syndrome Macrocephaly Neurodevelopmental Delay and Seizures Macrocephaly with intellectual disability Macrocephaly-developmental delay syndrome Macrocephaly-intellectual disability-autism syndrome Macrocephaly-intellectual disability-left ventricular non compaction syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax ... MACROCEPHALY/AUTISM SYNDROME Macrocephaly/megalencephaly syndrome autosomal recessive MACRODACTYLY Macrodactyly of fingers unilateral Macrodactyly of toes unilateral MACROGLOBULINEMIA WALDENSTROM SUSCEPTIBILITY TO 1 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or ... MACROTHROMBOCYTOPENIA AUTOSOMAL DOMINANT TUBB1-RELATED Macrothrombocytopenia-lymphedema-developmental delay-facial syndrome ... MACS syndrome Macular corneal dystrophy MACULAR DEGENERATION AGE-RELATED 1 MACULAR DEGENERATION AGE-RELATED 11 MACULAR DEGENERATION AGE-RELATED 12 MACULAR DEGENERATION AGE-RELATED 13 MACULAR DEGENERATION AGE-RELATED 14 MACULAR DEGENERATION AGE-RELATED 15 MACULAR DEGENERATION AGE-RELATED 2 MACULAR DEGENERATION AGE-RELATED 4 MACULAR DEGENERATION AGE-RELATED 5 MACULAR DEGENERATION AGE-RELATED 6 MACULAR DEGENERATION AGE-RELATED 7 MACULAR DEGENERATION AGE-RELATED 8 MACULAR DEGENERATION AGE-RELATED 9 MACULAR DEGENERATION EARLY-ONSET MACULAR DEGENERATION X-LINKED ATROPHIC MACULAR DYSTROPHY CORNEAL MACULAR DYSTROPHY PATTERNED 1 MACULAR DYSTROPHY PATTERNED 2 MACULAR DYSTROPHY PATTERNED 3 MACULAR DYSTROPHY RETINAL 2 MACULAR DYSTROPHY VITELLIFORM 2 MACULAR DYSTROPHY VITELLIFORM 3 MACULAR DYSTROPHY VITELLIFORM 4 MACULAR DYSTROPHY VITELLIFORM 5 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT MADD-related developmental disorder Maffucci syndrome MAGEL2-related Prader-Willi-like syndrome Mainzer-Saldino Syndrome MAJEED SYNDROME MAJOR AFFECTIVE DISORDER 7 MAJOR DEPRESSIVE DISORDER MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I B MAL DE MELEDA Malan overgrowth syndrome MALARIA MILD SUSCEPTIBILITY TO MALARIA SUSCEPTIBILITY TO MALARIA RESISTANCE TO INCLUDED Malate-Aspartate Shuttle-Related Encephalopathy Male infertility due to acephalic spermatozoa Male infertility due to globozoospermia Male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation MALEYLACETOACETATE ISOMERASE DEFICIENCY Malformations of cortical development and microcephaly. Maligant granulosa cell tumor of the ovary Malignant epithelial tumor of salivary glands Malignant hyperthermia of anesthesia MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 1 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TO 5 Malignant migrating focal seizures of infancy Malignant migrating partial seizures of infancy Malignant peripheral nerve sheath tumor Malignant Sertoli-Leydig cell tumor of the ovary Malonic aciduria MALONYL-CoA DECARBOXYLASE DEFICIENCY MALT lymphoma MAN1B1-CDG Mandibular hypoplasia deafness progeroid features and lipodystrophy syndrome Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY MANDIBULOFACIAL DYSOSTOSIS GUION-ALMEIDA TYPE MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY Mandibulofacial dysostosis-microcephaly syndrome Manitoba oculotrichoanal syndrome MANNOSE-BINDING LECTIN DEFICIENCY MANNOSIDOSIS ALPHA B LYSOSOMAL MANNOSIDOSIS BETA A LYSOSOMAL MANTLE CELL LYMPHOMA MAPK1-related Neurodevelopmental Disorder Maple Syrup Urine Disease MAPLE SYRUP URINE DISEASE MILD VARIANT Marden-Walker syndrome Marfan Syndrome Marfan syndrome type 1 Marfan syndrome type 2 Marfanoid Habitus and Cognitive Impairment MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME Marie Unna hereditary hypotrichosis MARINESCO-SJOEGREN SYNDROME Marinesco-Sjogren syndrome MARSHALL SYNDROME MARSHALL-SMITH SYNDROME MARSILI SYNDROME Martinez-Frias syndrome Martinique crinkled retinal pigment epitheliopathy MARTSOLF SYNDROME MASA SYNDROME MASP2 DEFICIENCY MASS syndrome MAST SYNDROME MAST1-related developmental disorder monoallelic MASTOCYTOSIS CUTANEOUS Maternal phenylketonuria Maternal riboflavin deficiency Maternally inherited diabetes and deafness Matthew-Wood syndrome MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 10 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 11 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 13 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 14 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 2 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 3 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 4 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 6 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 7 MATURITY-ONSET DIABETES OF THE YOUNG TYPE 8 WITH EXOCRINE DYSFUNCTION MATURITY-ONSET DIABETES OF THE YOUNG TYPE 9 MAU2 neurodevelopmental disorder Mazabraud syndrome McCune-Albright syndrome McKusick-Kaufman syndrome McLeod neuroacanthocytosis syndrome MCLEOD SYNDROME MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency MEACHAM SYNDROME Meckel syndrome Meckel syndrome 12 Meckel syndrome 13 Meckel syndrome 9 MECKEL SYNDROME TYPE 1 MECKEL SYNDROME TYPE 10 Meckel syndrome type 11 MECKEL SYNDROME TYPE 2 MECKEL SYNDROME TYPE 3 MECKEL SYNDROME TYPE 4 MECKEL SYNDROME TYPE 5 MECKEL SYNDROME TYPE 6 MECKEL SYNDROME TYPE 7 MECKEL SYNDROME TYPE 8 MECKEL SYNDROME TYPE 9 Meconium Ileus MED12-related Developmental Disorder MED13 - Neurodevelopment disorder MED27-related neurodevelopmental disorder Medium chain acyl-CoA dehydrogenase deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency MEDNIK syndrome MEDNIK-like Syndrome MEDULLARY CYSTIC KIDNEY DISEASE 1 MEDULLARY CYSTIC KIDNEY DISEASE 2 Medulloblastoma Medulloblastoma with extensive nodularity MEESMANN CORNEAL DYSTROPHY MEESTER-LOEYS SYNDROME MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL ... MEGABLADDER CONGENITAL Megaconial congenital muscular dystrophy Megacystis-microcolon-intestinal hypoperistalsis syndrome Megakaryoblastic acute myeloid leukemia with t1 Megalencephalic leukoencephalopathy with subcortical cysts MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A Megalencephalic leukoencephalopathy with subcortical cysts 2b remitting with or ... Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-Capillary malformation-Polymicrogyria syndrome somatic 3 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megaloblastic anemia due to dihydrofolate reductase deficiency MEGALOCORNEA Megalocornea X-linked MEGDEL syndrome MEHMO syndrome Meier-Gorlin syndrome 1 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome 3 Meier-Gorlin syndrome 4 Meier-Gorlin syndrome 5 MEIER-GORLIN SYNDROME 6 MEIER-GORLIN SYNDROME 7 MEIER-GORLIN SYNDROME 8 Meier-Gorlin Syndrome and Craniosynostosis MEIS2-related developmental disorder monoallelic Melanocytic nevus syndrome congenital Melanoma and neural system tumor syndrome MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 10 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 2 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 3 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 5 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 6 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 8 MELANOMA CUTANEOUS MALIGNANT SUSCEPTIBILITY TO 9 Melanoma of soft tissue MELANOMA-ASTROCYTOMA SYNDROME Melanoma-pancreatic cancer syndrome Melanosis neurocutaneous MELAS MELIOIDOSIS SUSCEPTIBILITY TOMELIOIDOSIS RESISTANCE TO INCLUDED MELNICK-NEEDLES SYNDROME MELORHEOSTOSIS ISOLATED Melorheostosis with osteopoikilosis MEMORY QUANTITATIVE TRAIT LOCUS MEND syndrome Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 ... Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 ... Mendelian susceptibility to mycobacterial diseases due to complete IL12B ... Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 ... Mendelian susceptibility to mycobacterial diseases due to complete ISG15 ... Mendelian susceptibility to mycobacterial diseases due to partial IRF8 ... Mendelian susceptibility to mycobacterial diseases due to partial STAT1 ... Meningioma MENINGIOMA FAMILIAL SUSCEPTIBILITY TO Menke-Hennekam syndrome 1 MENKE-HENNEKAM SYNDROME 2 MENKES DISEASE Menstrual cycle-dependent periodic fever Mental retardation and distinctive facial features with or without cardiac ... Mental retardation and microcephaly with pontine and cerebellar hypoplasia Mental retardation anterior maxillary protrusion and strabismus Mental retardation autosomal dominant 1 MENTAL RETARDATION AUTOSOMAL DOMINANT 10 MENTAL RETARDATION AUTOSOMAL DOMINANT 11 MENTAL RETARDATION AUTOSOMAL DOMINANT 13 MENTAL RETARDATION AUTOSOMAL DOMINANT 19 MENTAL RETARDATION AUTOSOMAL DOMINANT 20 MENTAL RETARDATION AUTOSOMAL DOMINANT 21 Mental retardation autosomal dominant 22 Mental retardation autosomal dominant 23 Mental retardation autosomal dominant 24 MENTAL RETARDATION AUTOSOMAL DOMINANT 26 MENTAL RETARDATION AUTOSOMAL DOMINANT 27 MENTAL RETARDATION AUTOSOMAL DOMINANT 28 MENTAL RETARDATION AUTOSOMAL DOMINANT 29 MENTAL RETARDATION AUTOSOMAL DOMINANT 3 MENTAL RETARDATION AUTOSOMAL DOMINANT 30 Mental retardation autosomal dominant 31 MENTAL RETARDATION AUTOSOMAL DOMINANT 32 MENTAL RETARDATION AUTOSOMAL DOMINANT 33 MENTAL RETARDATION AUTOSOMAL DOMINANT 34 MENTAL RETARDATION AUTOSOMAL DOMINANT 35 MENTAL RETARDATION AUTOSOMAL DOMINANT 36 MENTAL RETARDATION AUTOSOMAL DOMINANT 38 Mental retardation autosomal dominant 39 MENTAL RETARDATION AUTOSOMAL DOMINANT 40 MENTAL RETARDATION AUTOSOMAL DOMINANT 41 MENTAL RETARDATION AUTOSOMAL DOMINANT 42 MENTAL RETARDATION AUTOSOMAL DOMINANT 43 MENTAL RETARDATION AUTOSOMAL DOMINANT 45 MENTAL RETARDATION AUTOSOMAL DOMINANT 46 MENTAL RETARDATION AUTOSOMAL DOMINANT 47 MENTAL RETARDATION AUTOSOMAL DOMINANT 48 MENTAL RETARDATION AUTOSOMAL DOMINANT 5 MENTAL RETARDATION AUTOSOMAL DOMINANT 50 MENTAL RETARDATION AUTOSOMAL DOMINANT 51 MENTAL RETARDATION AUTOSOMAL DOMINANT 52 MENTAL RETARDATION AUTOSOMAL DOMINANT 53 MENTAL RETARDATION AUTOSOMAL DOMINANT 54 MENTAL RETARDATION AUTOSOMAL DOMINANT 55 WITH SEIZURES MENTAL RETARDATION AUTOSOMAL DOMINANT 56 MENTAL RETARDATION AUTOSOMAL DOMINANT 57 MENTAL RETARDATION AUTOSOMAL DOMINANT 58 MENTAL RETARDATION AUTOSOMAL DOMINANT 6 MENTAL RETARDATION AUTOSOMAL DOMINANT 6 WITH OR WITHOUT SEIZURES MENTAL RETARDATION AUTOSOMAL DOMINANT 7 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 mental retardation autosomal dominant type 7 Mental retardation autosomal recessive 1 MENTAL RETARDATION AUTOSOMAL RECESSIVE 12 MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 MENTAL RETARDATION AUTOSOMAL RECESSIVE 14 MENTAL RETARDATION AUTOSOMAL RECESSIVE 18 MENTAL RETARDATION AUTOSOMAL RECESSIVE 2 Mental retardation autosomal recessive 27 MENTAL RETARDATION AUTOSOMAL RECESSIVE 3 MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY Mental retardation autosomal recessive 36 MENTAL RETARDATION AUTOSOMAL RECESSIVE 37 Mental retardation autosomal recessive 38 Mental retardation autosomal recessive 39 Mental retardation autosomal recessive 40 MENTAL RETARDATION AUTOSOMAL RECESSIVE 41 Mental retardation autosomal recessive 42 Mental retardation autosomal recessive 43 Mental retardation autosomal recessive 44 Mental retardation autosomal recessive 45 Mental retardation autosomal recessive 46 Mental retardation autosomal recessive 47 MENTAL RETARDATION AUTOSOMAL RECESSIVE 48 MENTAL RETARDATION AUTOSOMAL RECESSIVE 5 MENTAL RETARDATION AUTOSOMAL RECESSIVE 50 Mental retardation autosomal recessive 51 MENTAL RETARDATION AUTOSOMAL RECESSIVE 52 MENTAL RETARDATION AUTOSOMAL RECESSIVE 53 MENTAL RETARDATION AUTOSOMAL RECESSIVE 54 MENTAL RETARDATION AUTOSOMAL RECESSIVE 56 MENTAL RETARDATION AUTOSOMAL RECESSIVE 57 MENTAL RETARDATION AUTOSOMAL RECESSIVE 58 MENTAL RETARDATION AUTOSOMAL RECESSIVE 59 MENTAL RETARDATION AUTOSOMAL RECESSIVE 6 MENTAL RETARDATION AUTOSOMAL RECESSIVE 60 MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 MENTAL RETARDATION AUTOSOMAL RECESSIVE 63 MENTAL RETARDATION AUTOSOMAL RECESSIVE 64 MENTAL RETARDATION AUTOSOMAL RECESSIVE 65 MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 MENTAL RETARDATION ENTEROPATHY DEAFNESS PERIPHERAL NEUROPATHY ICHTHYOSIS AND ... MENTAL RETARDATION FRA12A TYPE MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED MENTAL RETARDATION TRUNCAL OBESITY RETINAL DYSTROPHY AND MICROPENISSYNDROME Mental retardation with language impairment and autistic features MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC ... MENTAL RETARDATION X-LINKED 1 Mental retardation X-linked 100 Mental retardation X-linked 101 MENTAL RETARDATION X-LINKED 102 MENTAL RETARDATION X-LINKED 103 MENTAL RETARDATION X-LINKED 104 MENTAL RETARDATION X-LINKED 105 MENTAL RETARDATION X-LINKED 106 MENTAL RETARDATION X-LINKED 107 MENTAL RETARDATION X-LINKED 12 MENTAL RETARDATION X-LINKED 19 MENTAL RETARDATION X-LINKED 21 MENTAL RETARDATION X-LINKED 3 MENTAL RETARDATION X-LINKED 30 MENTAL RETARDATION X-LINKED 41 MENTAL RETARDATION X-LINKED 58 MENTAL RETARDATION X-LINKED 63 MENTAL RETARDATION X-LINKED 72 MENTAL RETARDATION X-LINKED 9 MENTAL RETARDATION X-LINKED 90 MENTAL RETARDATION X-LINKED 93 MENTAL RETARDATION X-LINKED 96 MENTAL RETARDATION X-LINKED 97 Mental retardation X-linked 98 Mental retardation X-linked 99 MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED MENTAL RETARDATION X-LINKED ARX-RELATED MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE FRAXE MENTAL RETARDATION X-LINKED CASK-RELATED MENTAL RETARDATION X-LINKED OPHN1-RELATED MENTAL RETARDATION X-LINKED SYNDROMIC 11 MENTAL RETARDATION X-LINKED SYNDROMIC 13 MENTAL RETARDATION X-LINKED SYNDROMIC 14 MENTAL RETARDATION X-LINKED SYNDROMIC 32 Mental retardation X-linked syndromic 33 MENTAL RETARDATION X-LINKED SYNDROMIC 34 MENTAL RETARDATION X-LINKED SYNDROMIC 35 MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE MENTAL RETARDATION X-LINKED SYNDROMIC CABEZAS TYPE MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE MENTAL RETARDATION X-LINKED SYNDROMIC HEDERA TYPE MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE MENTAL RETARDATION X-LINKED SYNDROMIC NASCIMENTO TYPE MENTAL RETARDATION X-LINKED SYNDROMIC SNYDER-ROBINSON TYPE MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE MENTAL RETARDATION X-LINKED SYP-RELATED MENTAL RETARDATION X-LINKED TYPE 1 MENTAL RETARDATION X-LINKED TYPE 21 MENTAL RETARDATION X-LINKED TYPE 30 MENTAL RETARDATION X-LINKED TYPE 41 MENTAL RETARDATION X-LINKED TYPE 44 MENTAL RETARDATION X-LINKED TYPE 46 mental retardation X-linked type 58 MENTAL RETARDATION X-LINKED TYPE 59 MENTAL RETARDATION X-LINKED TYPE 63 Mental retardation x-Linked type 72 (MRX72) +/- parkinsons MENTAL RETARDATION X-LINKED TYPE 90 MENTAL RETARDATION X-LINKED TYPE 91 MENTAL RETARDATION X-LINKED TYPE 93 MENTAL RETARDATION X-LINKED TYPE 94 MENTAL RETARDATION X-LINKED TYPE 95 MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL ... MENTAL RETARDATION X-LINKED WITH EPILEPSY MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY MENTAL RETARDATION X-LINKED WITH OR WITHOUT SEIZURES ARX-RELATED MENTAL RETARDATION X-LINKED WITH PANHYPOPITUITARISM MENTAL RETARDATION X-LINKED ... MENTAL RETARDATION X-LINKED ZNF711-RELATED MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME X-LINKED 1 MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ... MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS MEPAN syndrome MERRF Mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxial synostotic syndactyly with phalangeal reduction malik-Percin type MESOTHELIOMA MALIGNANT METABOLIC CRISES RECURRENT WITH RHABDOMYOLYSIS CARDIAC ARRHYTHMIAS AND ... METABOLIC CRISES RECURRENT WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND ... Metabolic myopathy due to lactate transporter defect METACARPAL 4-5 FUSION Metachondromatosis METACHROMATIC LEUKODYSTROPHY Metachromatic leukodystrophy adult form METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Metachromatic leukodystrophy juvenile form Metachromatic leukodystrophy late infantile form Metaphyseal anadysplasia Metaphyseal anadysplasia 2 METAPHYSEAL ANADYSPLASIA TYPE 1 Metaphyseal chondrodysplasia Jansen type METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE Metaphyseal chondrodysplasia Spahr type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria METAPHYSEAL DYSPLASIA SPAHR TYPE METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY Metaphyseal dysplasia without hypotrichosis Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome METATROPIC DYSPLASIA METHEMOGLOBINEMIA ALPHA TYPE METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA METHEMOGLOBINEMIA BETA TYPE METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE methionine adenosyltransferase deficiency METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG METHYLCOBALAMIN DEFICIENCY TYPE G Methylenetetrahydrofolate reductase deficiency METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA cblX TYPE Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia with homocystinuria type cblC Methylmalonic acidemia with homocystinuria type cblD Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria type cblJ Methylmalonic acidemia with homocystinuria type cblX METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblC TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblD TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblF TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblJ TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD methylmalonic aciduria and homocystinuria type cblF METHYLMALONIC ACIDURIA cblA TYPE METHYLMALONIC ACIDURIA cblB TYPE METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT METHYLMALONIC ACIDURIA TRANSIENT DUE TO TRANSCOBALAMIN RECEPTOR DEFECT methylmalonic aciduria type cblA Methylmalonic aciduria type cblB methylmalonic aciduria type mut METHYLMALONYL-CoA EPIMERASE DEFICIENCY Metopic ridging-ptosis-facial dysmorphism syndrome METTL23-related Intellectual Disability MEVALONIC ACIDURIA MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect MFN2-related developmental disorder MFSD8-Related Neuronal Ceroid-Lipofuscinosis MGAT2-CDG MIB1-related developmental disorder monoallelic Micro syndrome MICROANGIOPATHY AND LEUKOENCEPHALOPATHY PONTINE AUTOSOMAL DOMINANT Microcephalic dwarfism Microcephalic osteodysplastic dysplasia Saul-Wilson type MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I Microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic primordial dwarfism Microcephalic primordial dwarfism Dauber type Microcephalic primordial dwarfism due to RTTN deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism-insulin resistance syndrome Microcephaly MICROCEPHALY 1 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 10 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 11 PRIMARY AUTOSOMAL RECESSIVE Microcephaly 12 primary autosomal recessive Microcephaly 13 primary autosomal recessive MICROCEPHALY 14 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 16 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 18 PRIMARY AUTOSOMAL DOMINANT MICROCEPHALY 19 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 2 PRIMARY AUTOSOMAL RECESSIVE WITH OR WITHOUT CORTICAL ... MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 22 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 23 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 24 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 25 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 3 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 4 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 5 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 6 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 7 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 8 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 9 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY AMISH TYPE MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 1 Microcephaly and chorioretinopathy autosomal recessive 2 MICROCEPHALY AND CHORIORETINOPATHY AUTOSOMAL RECESSIVE 3 Microcephaly and chorioretinopathy with or without mental retardation Microcephaly and Lissencephaly Spectrum Disorders MICROCEPHALY CATARACTS IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSTONIA WITH ... MICROCEPHALY CONGENITAL CATARACT AND PSORIASIFORM DERMATITIS MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION Microcephaly Developmental Delay and Brittle Hair and Nails MICROCEPHALY DEVELOPMENTAL DELAY AND BRITTLE HAIR SYNDROME MICROCEPHALY EPILEPSY AND DIABETES SYNDROME MICROCEPHALY FACIAL DYSMORPHISM RENAL AGENESIS AND AMBIGUOUS GENITALIA SYNDROME MICROCEPHALY GROWTH DEFICIENCY SEIZURES AND BRAIN MALFORMATIONS Microcephaly growth failure and retinopathy MICROCEPHALY GROWTH RESTRICTION AND INCREASED SISTER CHROMATID EXCHANGE 2 Microcephaly hearing loss and dysmorphic features Microcephaly postnatal progressive with seizures and brain atrophy MICROCEPHALY PRIMARY TYPE 1 microcephaly primary type 7 Microcephaly progressive seizures and cerebral and cerebellar atrophy Microcephaly progressive with seizures and cerebral and cerebellar atrophy MICROCEPHALY SEIZURES AND DEVELOPMENTAL DELAY MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 1 MICROCEPHALY SHORT STATURE AND IMPAIRED GLUCOSE METABOLISM 2 MICROCEPHALY SHORT STATURE AND LIMB ABNORMALITIES MICROCEPHALY SHORT STATURE AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES Microcephaly with or without chorioretinopathy lymphedema or mental retardation Microcephaly with short stature MICROCEPHALY-CAPILLARY MALFORMATION MIC-CAP SYNDROME Microcephaly-capillary malformation syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial disability ... Microcephaly-corpus callosum hypoplasia-intellectual disability-facial syndrome ... Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies ... Microcephaly-intellectual disability-sensorineural hearing muscle tone syndrome ... Microcephaly-lymphedema-chorioretinopathy syndrome Microcephaly-micromelia syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-limb abnormalities syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome Microcornea myopic chorioretinal atrophy and telecanthus MICROCORNEA ROD-CONE DYSTROPHY CATARACT AND POSTERIOR STAPHYLOMA 1 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcystic stromal tumor Microcytic anemia with liver iron overload Microduplication Xp11.22-p11.23 syndrome Microform holoprosencephaly Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual ... MICROHYDRANENCEPHALY Microlissencephaly Microphthalmia and Diaphragmatic Hernia MICROPHTHALMIA ISOLATED 2 MICROPHTHALMIA ISOLATED 3 MICROPHTHALMIA ISOLATED 4 MICROPHTHALMIA ISOLATED 5 MICROPHTHALMIA ISOLATED 6 MICROPHTHALMIA ISOLATED 7 MICROPHTHALMIA ISOLATED 8 microphthalmia isolated type 2 MICROPHTHALMIA ISOLATED TYPE 3 MICROPHTHALMIA ISOLATED TYPE 5 MICROPHTHALMIA ISOLATED TYPE 6 MICROPHTHALMIA ISOLATED WITH CATARACT 2 MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 MICROPHTHALMIA ISOLATED WITH COLOBOMA 10 MICROPHTHALMIA ISOLATED WITH COLOBOMA 3 MICROPHTHALMIA ISOLATED WITH COLOBOMA 5 MICROPHTHALMIA ISOLATED WITH COLOBOMA 6 Microphthalmia isolated with coloboma 7 MICROPHTHALMIA ISOLATED WITH COLOBOMA 9 microphthalmia isolated with coloboma type 5 Microphthalmia Lenz type MICROPHTHALMIA SYNDROMIC 1 MICROPHTHALMIA SYNDROMIC 11 Microphthalmia syndromic 12 Microphthalmia syndromic 13 MICROPHTHALMIA SYNDROMIC 14 MICROPHTHALMIA SYNDROMIC 14 biallelic MICROPHTHALMIA SYNDROMIC 2 MICROPHTHALMIA SYNDROMIC 3 MICROPHTHALMIA SYNDROMIC 5 MICROPHTHALMIA SYNDROMIC 6 MICROPHTHALMIA SYNDROMIC 9 MICROPHTHALMIA SYNDROMIC TYPE 2 MICROPHTHALMIA SYNDROMIC TYPE 3 MICROPHTHALMIA SYNDROMIC TYPE 5 MICROPHTHALMIA SYNDROMIC TYPE 7 MICROPHTHALMIA SYNDROMIC TYPE 8 MICROPHTHALMIA SYNDROMIC TYPE 9 Microphthalmia with brain and digit anomalies MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES MICROPHTHALMIA WITH LIMB ANOMALIES MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Microphthalmia with Linear Skin Lesions Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME Microspherophakia MICROSPHEROPHAKIA AND/OR MEGALOCORNEA WITH ECTOPIA LENTIS AND WITHOR WITHOUT ... Microtia MICROTIA HEARING IMPAIRMENT AND CLEFT PALATE MICROTIA WITH OR WITHOUT HEARING ... MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 1 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 2 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 3 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 4 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 5 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 6 MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 7 MICROVILLUS INCLUSION DISEASE Midface hypoplasia hearing impairment elliptocytosis and nephrocalcinosis Midline interhemispheric variant of holoprosencephaly Midline-bridging neuronal commissure disruption horizontal gaze palsy scoliosis ... MIGRAINE FAMILIAL HEMIPLEGIC 1 MIGRAINE FAMILIAL HEMIPLEGIC 2 MIGRAINE FAMILIAL HEMIPLEGIC 3 MIGRAINE FAMILIAL HEMIPLEGIC ATP1A2-related MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 1 MIGRAINE WITH OR WITHOUT AURA SUSCEPTIBILITY TO 13 Mild Canavan disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild phenylketonuria Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset ... Miller-Dieker syndrome Milroy Disease MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Minimal pigment oculocutaneous albinism type 1 MIRAGE - myelodysplasia infection restriction of growth adrenal hypoplasia ... MIRAGE SYNDROME MIRROR MOVEMENTS 1 MIRROR MOVEMENTS 2 MIRROR MOVEMENTS 3 MIRROR MOVEMENTS 4 Mirror-image polydactyly MISMATCH REPAIR CANCER SYNDROME MISMATCH REPAIR CANCER SYNDROME 1 MISMATCH REPAIR CANCER SYNDROME 2 MISMATCH REPAIR CANCER SYNDROME 3 MISMATCH REPAIR CANCER SYNDROME 4 MiT family translocation renal cell carcinoma MITCHELL SYNDROME Mitchell-Riley syndrome MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial complex I deficiency Mitochondrial complex I deficiency nuclear type 1 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 10 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 11 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 12 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 13 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 14 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 15 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 16 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 17 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 18 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 19 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 2 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 20 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 21 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 22 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 23 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 24 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 25 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 26 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 27 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 28 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 29 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 3 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 30 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 31 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 32 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 33 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 34 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 35 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 4 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 5 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 6 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 7 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 8 MITOCHONDRIAL COMPLEX I DEFICIENCY NUCLEAR TYPE 9 Mitochondrial complex II deficiency MITOCHONDRIAL COMPLEX III DEFICIENCY Mitochondrial Complex III Deficiency Cardiomyopathy and Alopecia Totalis MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 1 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 10 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 2 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 5 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 6 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 8 MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 9 MITOCHONDRIAL COMPLEX IV DEFICIENCY MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 1 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 10 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 11 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 12 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 13 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 14 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 15 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 16 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 17 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 18 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 19 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 2 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 20 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 21 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 3 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 4 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 5 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 6 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 7 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 8 MITOCHONDRIAL COMPLEX IV DEFICIENCY NUCLEAR TYPE 9 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 1 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 2 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 3 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 4 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 5 MITOCHONDRIAL COMPLEX V ATP SYNTHASE DEFICIENCY NUCLEAR TYPE 6 Mitochondrial depletion syndrome MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) MITOCHONDRIAL DNA DEPLETION SYNDROME 11 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE) AUTOSOMAL ... MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE) AUTOSOMAL ... Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) MITOCHONDRIAL DNA DEPLETION SYNDROME 16 HEPATIC TYPE MITOCHONDRIAL DNA DEPLETION SYNDROME 17 MITOCHONDRIAL DNA DEPLETION SYNDROME 18 MITOCHONDRIAL DNA DEPLETION SYNDROME 19 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 MYOPATHIC TYPE MITOCHONDRIAL DNA DEPLETION SYNDROME 3 HEPATOCEREBRAL TYPE Mitochondrial DNA depletion syndrome 4A MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Mitochondrial DNA depletion syndrome 4B MNGIE type Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without ... MITOCHONDRIAL DNA DEPLETION SYNDROME 6 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 HEPATOCEREBRAL TYPE MITOCHONDRIAL DNA DEPLETION SYNDROME 7 HEPATOCEREBRAL TYPE MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL ... MITOCHONDRIAL DNA DEPLETION SYNDROME 9 ENCEPHALOMYOPATHIC TYPE ACIDURIA ... Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic ... Mitochondrial DNA depletion syndrome encephalomyopathic form with renal ... Mitochondrial DNA depletion syndrome encephalomyopathic form with variable ... Mitochondrial DNA depletion syndrome hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome hepatocerebrorenal form Mitochondrial DNA Depletion Syndrome Myopathic Form Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 ... Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Mitochondrial membrane protein-associated neurodegeneration Mitochondrial myopathy and sideroblastic anemia MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES MITOCHONDRIAL MYOPATHY EPISODIC WITH OR WITHOUT OPTIC ATROPHY ANDREVERSIBLE ... Mitochondrial myopathy with lactic acidosis Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial non-syndromic sensorineural deafness MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND ... MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Respiratory Chain Complex III Deficiency UQCRB-Related Mitochondrial Respiratory Chain Complex III Deficiency UQCRQ Related Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY Mitochondrial translation defect associated with hypertrophic cardiomyopathy ... Mitochondrial trifunctional protein deficiency MITRAL VALVE PROLAPSE 2 MITRAL VALVE PROLAPSE 3 Mixed phenotype acute leukemia MIYOSHI MUSCULAR DYSTROPHY 1 MIYOSHI MUSCULAR DYSTROPHY 3 MIYOSHI MYOPATHY MME-related autosomal dominant Charcot Marie Tooth disease type 2 MMGT1-related developmental disorder MMP21-associated heterotaxy MN1 C-terminal truncation syndrome Moderate multiminicore disease with hand involvement Moderate Sensorineural Hearing Loss Moderately severe hemophilia A Moderately severe hemophilia B MODY Moebius syndrome MOGS-CDG Mohr-Majewski Syndrome MOHR-TRANEBJAERG SYNDROME Molybdenum Cofactor Deficiency MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP A MOLYBDENUM COFACTOR DEFICIENCY COMPLEMENTATION GROUP B Molybdenum cofactor deficiency complementation group C MONILETHRIX Monoamine oxidase A deficiency MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY Monocytopenia with susceptibility to infections Monomelic amyotrophy MONONEUROPATHY OF THE MEDIAN NERVE MILD Monosomy 13q14 Monosomy 22q13.3 Monosomy 5p Monosomy 9q22.3 Monostotic fibrous dysplasia Morbid obesity and spermatogenic failure MORC2 - axonal neuropathy and neurodevelopmental disorder MORM syndrome Morning glory disc anomaly Mosaic Variegated Aneuploidy and Wilms Tumour Mosaic variegated aneuploidy syndrome MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 Mosaic variegated aneuploidy syndrome 2 Mosaic variegated aneuploidy syndrome 3 Motile Cilia Defects and Situs Inversus Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body ... MOWAT-WILSON SYNDROME Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to monosomy 2q22 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic syndrome ... Moyamoya disease MOYAMOYA DISEASE 2 Moyamoya disease 5 MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA Moyamoya disease with early-onset achalasia MPDU1-CDG MPI-CDG MRCS syndrome MRX with/without nystagmus MSH3-related attenuated familial adenomatous polyposis MSI1-associated Microcephaly MSL2-related developmental disorder monoallelic MSL3 syndrome MT-ATP6-related mitochondrial spastic paraplegia MUC1-related autosomal dominant tubulointerstitial kidney disease MUCKLE-WELLS SYNDROME Mucociliary Clearance and Laterality Defects MUCOCUTANEOUS ULCERATION CHRONIC Mucocutaneous venous malformations MUCOEPITHELIAL DYSPLASIA HEREDITARY MUCOLIPIDOSIS II ALPHA/BETA MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS III GAMMA MUCOLIPIDOSIS IV MUCOLIPIDOSIS TYPE II Mucolipidosis Type III Alpha/Beta Mucolipidosis type III complementation group A MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C Mucolipidosis type III gamma Mucolipidosis type IV MUCOPOLYSACCHARIDOSIS TYPE 1S MUCOPOLYSACCHARIDOSIS TYPE 2 Mucopolysaccharidosis type 2 attenuated form Mucopolysaccharidosis type 2 severe form MUCOPOLYSACCHARIDOSIS TYPE 3A MUCOPOLYSACCHARIDOSIS TYPE 3B MUCOPOLYSACCHARIDOSIS TYPE 3C MUCOPOLYSACCHARIDOSIS TYPE 3D Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B MUCOPOLYSACCHARIDOSIS TYPE 6 Mucopolysaccharidosis type 6 rapidly progressing Mucopolysaccharidosis type 6 slowly progressing Mucopolysaccharidosis type 7 MUCOPOLYSACCHARIDOSIS TYPE 9 MUCOPOLYSACCHARIDOSIS TYPE II MUCOPOLYSACCHARIDOSIS TYPE IIIA MUCOPOLYSACCHARIDOSIS TYPE IIIB MUCOPOLYSACCHARIDOSIS TYPE IIIC MUCOPOLYSACCHARIDOSIS TYPE IIID MUCOPOLYSACCHARIDOSIS TYPE IVA MUCOPOLYSACCHARIDOSIS TYPE IVB MUCOPOLYSACCHARIDOSIS TYPE IX MUCOPOLYSACCHARIDOSIS TYPE VI MUCOPOLYSACCHARIDOSIS TYPE VII Mucopolysaccharidosis-like syndrome with congenital heart defects and disorders ... MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME MUENKE SYNDROME Muir-Torre syndrome MULIBREY NANISM MULLEGAMA-KLEIN-MARTINEZ SYNDROME Mullerian aplasia and hyperandrogenism Multicentric carpo-tarsal osteolysis with or without nephropathy MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME MULTICENTRIC OSTEOLYSIS NODULOSIS AND ARTHROPATHY Multicentric osteolysis-nodulosis-arthropathy spectrum Multifocal pattern dystrophy simulating fundus flavimaculatus MULTINUCLEATED NEURONS ANHYDRAMNIOS RENAL DYSPLASIA CEREBELLAR HYPOPLASIA AND ... Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar syndrome ... MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY Multiple acyl-CoA dehydrogenase deficiency mild type Multiple acyl-CoA dehydrogenase deficiency severe neonatal type Multiple benign circumferential skin creases on limbs MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple endocrine neoplasia IIB Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 MULTIPLE ENDOCRINE NEOPLASIA TYPE I MULTIPLE ENDOCRINE NEOPLASIA TYPE IIA MULTIPLE ENDOCRINE NEOPLASIA TYPE IIB MULTIPLE ENDOCRINE NEOPLASIA TYPE IV Multiple epiphyseal dysplasia Al-Gazali type Multiple epiphyseal dysplasia Beighton type Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 MULTIPLE FIBROADENOMAS OF THE BREAST Multiple intestinal atresia MULTIPLE JOINT DISLOCATIONS SHORT STATURE AND CRANIOFACIAL DYSMORPHISMWITH OR ... Multiple malformations of neural tube ear genitourinary and gastrointestinal ... Multiple mitochondrial dysfunctions syndrome 1 Multiple mitochondrial dysfunctions syndrome 2 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome type 6 Multiple myeloma Multiple osteochondromas Multiple paragangliomas associated with polycythemia MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE MULTIPLE SCLEROSIS SUSCEPTIBILITY TO MULTIPLE SCLEROSIS SUSCEPTIBILITY TO 5 Multiple self-healing squamous epithelioma MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA SUSCEPTIBILITY TO MULTIPLE SULFATASE DEFICIENCY Multiple symmetric lipomatosis Multiple synostoses syndrome MULTIPLE SYNOSTOSES SYNDROME 1 MULTIPLE SYNOSTOSES SYNDROME 2 MULTIPLE SYNOSTOSES SYNDROME 3 MULTIPLE SYNOSTOSES SYNDROME 4 multiple synostoses syndrome type 3 MULTIPLE SYSTEM ATROPHY 1 SUSCEPTIBILITY TO Multiple system atrophy cerebellar type Multiple system atrophy parkinsonian type MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME MUNGAN SYNDROME Muscle filaminopathy MUSCLE HYPERTROPHY Muscle Weakness and Isolated Complex I Deficiency Muscle-eye-brain disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE MUSCULAR DYSTROPHY BECKER TYPE Muscular dystrophy congenital davignon-chauveau type MUSCULAR DYSTROPHY CONGENITAL DUE TO INTEGRIN ALPHA-7 DEFICIENCY MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED Muscular dystrophy congenital megaconial type MUSCULAR DYSTROPHY CONGENITAL MEROSIN-DEFICIENT 1A MUSCULAR DYSTROPHY CONGENITAL WITH CATARACTS AND INTELLECTUAL DISABILITY MUSCULAR DYSTROPHY DUCHENNE TYPE MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 1 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 2 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 3 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL DOMINANT 4 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 1 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 10 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 12 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 17 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 18 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 2 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 21 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 23 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 25 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 26 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 3 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 4 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 5 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 6 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 7 MUSCULAR DYSTROPHY LIMB-GIRDLE AUTOSOMAL RECESSIVE 8 Muscular dystrophy limb-girdle type 2Q Muscular dystrophy limb-girdle type 2S Muscular dystrophy Selcen type MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ... muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYEANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYEANOMALIES A ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 2 ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 3 ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 6 ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH IMPAIRED INTELLECTUAL B 1 ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT IMPAIRED TYPE ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT IMPAIRED INTELLECTUAL ... MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 12 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 14 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 15 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 2 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 5 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 7 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 8 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C 9 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 Musculocontractural Ehlers-Danlos syndrome Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa Mutilating hereditary sensory neuropathy with spastic paraplegia Mutilating palmoplantar keratoderma with periorificial keratotic plaques MUTYH-related attenuated familial adenomatous polyposis MYASTHENIC SYNDROME CONGENITAL 10 MYASTHENIC SYNDROME CONGENITAL 11 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ... MYASTHENIC SYNDROME CONGENITAL 12 MYASTHENIC SYNDROME CONGENITAL 13 MYASTHENIC SYNDROME CONGENITAL 14 Myasthenic syndrome congenital 15 MYASTHENIC SYNDROME CONGENITAL 16 MYASTHENIC SYNDROME CONGENITAL 17 MYASTHENIC SYNDROME CONGENITAL 18 Myasthenic syndrome congenital 19 MYASTHENIC SYNDROME CONGENITAL 1B FAST-CHANNEL MYASTHENIC SYNDROME CONGENITAL 20 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 21 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 22 MYASTHENIC SYNDROME CONGENITAL 23 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 24 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 25 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 2A SLOW-CHANNEL MYASTHENIC SYNDROME CONGENITAL 2C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ... MYASTHENIC SYNDROME CONGENITAL 3A SLOW-CHANNEL MYASTHENIC SYNDROME CONGENITAL 3B FAST-CHANNEL Myasthenic syndrome congenital 3c associated with acetylcholine receptor ... MYASTHENIC SYNDROME CONGENITAL 4A SLOW-CHANNEL MYASTHENIC SYNDROME CONGENITAL 4B FAST-CHANNEL MYASTHENIC SYNDROME CONGENITAL 4C ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ... MYASTHENIC SYNDROME CONGENITAL 5 MYASTHENIC SYNDROME CONGENITAL 6 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 7 PRESYNAPTIC MYASTHENIC SYNDROME CONGENITAL 8 MYASTHENIC SYNDROME CONGENITAL 9 ASSOCIATED WITH ACETYLCHOLINE RECEPTOR ... MYASTHENIC SYNDROME CONGENITAL WITH TUBULAR AGGREGATES 2 MYBPC1-related arthrogryposis and myopathy MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex syndrome ... MYCOBACTERIUM TUBERCULOSIS SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS AGAINST ... MYELODYSPLASTIC SYNDROME Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA INCLUDED Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement MYELOMA MULTIPLE AMYLOIDOSIS SYSTEMIC INCLUDED MYELOPEROXIDASE DEFICIENCY MYELOPROLIFERATIVE DISORDER CHRONIC WITH EOSINOPHILIA MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS FAMILIAL (MULTIPLE TYPES) TO ... MYH10-related Multiple congenital anomalies MYH7-related late-onset scapuloperoneal muscular dystrophy MYH9-related disease Myhre syndrome MYLPF arthrogryposis biallelic MYLPF arthrogryposis monoallelic MYO5B-related progressive familial intrahepatic cholestasis MYOCARDIAL INFARCTION SUSCEPTIBILITY TO MYOCARDIAL INFARCTION SUSCEPTIBILITY TO ... MYOCLONIC EPILEPSY FAMILIAL INFANTILE Myoclonic epilepsy infantile familial MYOCLONIC EPILEPSY OF LAFORA MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG Myoclonic-astastic epilepsy MYOCLONIC-ATONIC EPILEPSY MYOCLONUS FAMILIAL 1 MYOCLONUS FAMILIAL 2 MYOCLONUS INTRACTABLE NEONATAL MYOCLONUS-DYSTONIA SYNDROME MYOFIBRILLAR MYOPATHY 10 MYOFIBROMATOSIS INFANTILE 1 MYOFIBROMATOSIS INFANTILE 2 Myoglobinuria acute recurrent autosomal recessive Myopathic Ehlers-Danlos syndrome Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy areflexia respiratory distress and dysphagia early-onset MYOPATHY AUTOSOMAL RECESSIVE WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES MYOPATHY CENTRONUCLEAR 1 MYOPATHY CENTRONUCLEAR 2 MYOPATHY CENTRONUCLEAR 4 Myopathy centronuclear 5 MYOPATHY CENTRONUCLEAR 6 WITH FIBER-TYPE DISPROPORTION MYOPATHY CENTRONUCLEAR X-LINKED MYOPATHY CONGENITAL BAILEY-BLOCH MYOPATHY CONGENITAL COMPTON-NORTH MYOPATHY CONGENITAL PROGRESSIVE WITH SCOLIOSIS MYOPATHY CONGENITAL PROXIMAL WITH MINICORE LESIONS MYOPATHY CONGENITAL WITH DIAPHRAGMATIC DEFECTS RESPIRATORY INSUFFICIENCY AND ... MYOPATHY CONGENITAL WITH FAST-TWITCH (TYPE II) FIBER ATROPHY MYOPATHY CONGENITAL WITH FIBER-TYPE DISPROPORTION MYOPATHY CONGENITAL WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES MYOPATHY CONGENITAL WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES MYOPATHY CONGENITAL WITH TREMOR MYOPATHY DISTAL 1 MYOPATHY DISTAL 4 MYOPATHY DISTAL 5 MYOPATHY DISTAL 6 ADULT-ONSET AUTOSOMAL DOMINANT MYOPATHY DISTAL TATEYAMA TYPE MYOPATHY DISTAL WITH ANTERIOR TIBIAL ONSET MYOPATHY DISTAL WITH RIMMED VACUOLES MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY Myopathy early-onset areflexia respiratory distress and dysphagia MYOPATHY EPILEPSY AND PROGRESSIVE CEREBRAL ATROPHY Myopathy isolated mitochondrial autosomal dominant MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 1 MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 2 MYOPATHY MITOCHONDRIAL AND ATAXIA MYOPATHY MITOCHONDRIAL PROGRESSIVE WITH CONGENITAL CATARACT AND DEVELOPMENTAL ... MYOPATHY MYOFIBRILLAR 1 Myopathy myofibrillar 2 MYOPATHY MYOFIBRILLAR 3 MYOPATHY MYOFIBRILLAR 4 MYOPATHY MYOFIBRILLAR 5 Myopathy myofibrillar 6 MYOPATHY MYOFIBRILLAR 7 MYOPATHY MYOFIBRILLAR 8 MYOPATHY MYOFIBRILLAR 9 WITH EARLY RESPIRATORY FAILURE Myopathy myofibrillar fatal infantile hypertonic alpha-B crystallin-related MYOPATHY MYOFIBRILLAR TYPE 4 MYOPATHY MYOSIN STORAGE AUTOSOMAL DOMINANT MYOPATHY MYOSIN STORAGE AUTOSOMAL RECESSIVE MYOPATHY PROXIMAL WITH OPHTHALMOPLEGIA MYOPATHY SCAPULOHUMEROPERONEAL MYOPATHY SPHEROID BODY MYOPATHY TUBULAR AGGREGATE 1 Myopathy tubular aggregate 2 Myopathy vacuolar with casq1 aggregates Myopathy with extrapyramidal signs MYOPATHY WITH LACTIC ACIDOSIS HEREDITARY MYOPATHY X-LINKED WITH EXCESSIVE AUTOPHAGY MYOPATHY X-LINKED WITH POSTURAL MUSCLE ATROPHY MYOPIA 21 AUTOSOMAL DOMINANT MYOPIA 22 AUTOSOMAL DOMINANT Myopia 23 autosomal recessive MYOPIA 24 AUTOSOMAL DOMINANT MYOPIA 25 AUTOSOMAL DOMINANT MYOPIA 26 X-LINKED FEMALE-LIMITED MYOPIA 27 Myopia 6 MYOPIA HIGH WITH CATARACT AND VITREORETINAL DEGENERATION Myosclerosis MYOSCLEROSIS AUTOSOMAL RECESSIVE Myostatin-related muscle hypertrophy MYOTONIA CONGENITA AUTOSOMAL DOMINANT MYOTONIA CONGENITA AUTOSOMAL RECESSIVE MYOTONIA FLUCTUANS MYOTONIA PERMANENS MYOTONIA POTASSIUM-AGGRAVATED MYOTONIC DYSTROPHY 1 MYOTONIC DYSTROPHY 2 MYOTUBULAR MYOPATHY X-LINKED MYT1L syndrome Myxofibrosarcoma Myxoid/round cell liposarcoma MYXOMA INTRACARDIAC N-ACETYLASPARTATE DEFICIENCY N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NABAIS SA-DE VRIES SYNDROME TYPE 1 NABAIS SA-DE VRIES SYNDROME TYPE 2 NADPH DEHYDROGENASE QUINONE 1 NADPHX dehydratase deficiency NADPHX epimerase deficiency NADSYN1-related Congenital NAD Deficiency Disorder Naegeli-Franceschetti-Jadassohn syndrome Nager syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral syndrome ... NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 NAIL DISORDER NONSYNDROMIC CONGENITAL 1 NAIL DISORDER NONSYNDROMIC CONGENITAL 3 NAIL DISORDER NONSYNDROMIC CONGENITAL 4 NAIL DISORDER NONSYNDROMIC CONGENITAL 8 NAIL-PATELLA SYNDROME Nail-patella-like renal disease Nakajo syndrome NANCE-HORAN SYNDROME Nanophthalmos NANOPHTHALMOS 2 Nanophthalmos 4 NAPB-related Neurodevelopmental Disorder NARCOLEPSY 1 NARCOLEPSY 7 Narcolepsy type 1 Narcolepsy type 2 NARP syndrome NARS1 Neurodevelopmental Disorder biallelic NARS1 Neurodevelopmental Disorder monoallelic NASOPHARYNGEAL CARCINOMA NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY TO 3 Nasu-Hakola disease NATIVE AMERICAN MYOPATHY Navajo neurohepatopathy NAXOS DISEASE NBEA Neurodevelopment disorder with seizures NCKAP1-related Neurodevelopmental Disorder NCOR1-related developmental disorder NDE1-related microhydranencephaly NDNF-related Congenital Hypogonadotrophic Hypogonadism NDUFA8-related developmental disorder NDUFAF8-related Leigh Syndrome NEK9-related lethal skeletal dysplasia NEMALINE MYOPATHY 1 Nemaline myopathy 10 NEMALINE MYOPATHY 11 AUTOSOMAL RECESSIVE Nemaline myopathy 2 NEMALINE MYOPATHY 3 NEMALINE MYOPATHY 4 NEMALINE MYOPATHY 5 Nemaline myopathy 6 NEMALINE MYOPATHY 7 Nemaline myopathy 8 Nemaline myopathy 8 autosomal recessive NEMALINE MYOPATHY 9 Neonatal acute respiratory distress due to SP-B deficiency NEONATAL ADRENOLEUKODYSTROPHY Neonatal alloimmune neutropenia Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic kidneys ... Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Neonatal epilepsy spectrum Neonatal epileptic encephalopathy due to glutaminase deficiency Neonatal glycine encephalopathy Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal inflammatory skin and bowel disease Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal Marfan syndrome Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect Neonatal severe primary hyperparathyroidism Neonatal-onset epilepsy defective mitochondrial energy metabolism and glycine ... Nephroblastoma Nephrogenic diabetes insipidus NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS NEPHROLITHIASIS CALCIUM OXALATE NEPHROLITHIASIS URIC ACID SUSCEPTIBILITY TO NEPHROLITHIASIS X-LINKED RECESSIVE WITH RENAL FAILURE NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 1 NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 2 NEPHRONOPHTHISIS 1 NEPHRONOPHTHISIS 11 NEPHRONOPHTHISIS 12 NEPHRONOPHTHISIS 13 Nephronophthisis 14 NEPHRONOPHTHISIS 15 Nephronophthisis 16 NEPHRONOPHTHISIS 18 Nephronophthisis 19 NEPHRONOPHTHISIS 2 NEPHRONOPHTHISIS 20 NEPHRONOPHTHISIS 3 NEPHRONOPHTHISIS 4 Nephronophthisis 7 NEPHRONOPHTHISIS 9 Nephronophthisis Related Ciliopathy NEPHRONOPHTHISIS TYPE 1 NEPHRONOPHTHISIS TYPE 11 NEPHRONOPHTHISIS TYPE 3 NEPHRONOPHTHISIS TYPE 4 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 nephropathy with pretibial epidermolysis bullosa and deafness NEPHROTIC SYNDROME TYPE 1 Nephrotic syndrome type 10 Nephrotic syndrome type 11 NEPHROTIC SYNDROME TYPE 12 NEPHROTIC SYNDROME TYPE 13 NEPHROTIC SYNDROME TYPE 14 NEPHROTIC SYNDROME TYPE 15 NEPHROTIC SYNDROME TYPE 16 NEPHROTIC SYNDROME TYPE 17 NEPHROTIC SYNDROME TYPE 18 NEPHROTIC SYNDROME TYPE 19 NEPHROTIC SYNDROME TYPE 2 NEPHROTIC SYNDROME TYPE 20 NEPHROTIC SYNDROME TYPE 21 NEPHROTIC SYNDROME TYPE 3 NEPHROTIC SYNDROME TYPE 4 Nephrotic syndrome type 5 with or without ocular abnormalities NEPHROTIC SYNDROME TYPE 6 NEPHROTIC SYNDROME TYPE 7 NEPHROTIC SYNDROME TYPE 8 Nephrotic syndrome type 9 Nephrotic syndrome with primary microcephaly Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome NESCAV SYNDROME Nestor-Guillermo progeria syndrome NETHERTON SYNDROME NEU-LAXOVA Neu-Laxova syndrome NEU-LAXOVA SYNDROME 1 Neu-laxova syndrome 2 Neural tube defect NEURAL TUBE DEFECTS Neural tube defects folate-sensitive Neural tube defects susceptibility to Neuralgic amyotrophy NEURAMINIDASE DEFICIENCY Neuro immuno skeletal Dysplasia Syndrome Neuroblastoma NEUROBLASTOMA SUSCEPTIBILITY TO 1 NEUROBLASTOMA SUSCEPTIBILITY TO 2 NEUROBLASTOMA SUSCEPTIBILITY TO 3 NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED WITH VARIABLE ATAXIA AND ... NEURODEGENERATION CHILDHOOD-ONSET WITH ATAXIA TREMOR OPTIC ATROPHY AND DECLINE ... NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY NEURODEGENERATION CHILDHOOD-ONSET WITH CEREBELLAR ATROPHY Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY NEURODEGENERATION EARLY-ONSET WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ... Neurodegeneration in Early Childhood NEURODEGENERATION INFANTILE-ONSET BIOTIN-RESPONSIVE NEURODEGENERATION WITH ATAXIA DYSTONIA AND GAZE PALSY CHILDHOOD-ONSET Neurodegeneration with brain iron accumulation NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 Neurodegeneration with brain iron accumulation 5 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy Neurodegenerative disorder exacerbated by febrile illnesses Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodevelopment disorder Neurodevelopmental Cardiac and Renal Syndrome Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial ... Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar ... Neurodevelopmental Disease Associated with Mild Dysmorphism Neurodevelopmental disorder NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ... NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT AND ... Neurodevelopmental Disorder in Females NEURODEVELOPMENTAL DISORDER MITOCHONDRIAL WITH ABNORMAL MOVEMENTS AND LACTIC OR ... Neurodevelopmental Disorder of Hypusination NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES NEURODEVELOPMENTAL DISORDER WITH ALOPECIA AND BRAIN ABNORMALITIES NEURODEVELOPMENTAL DISORDER WITH ATAXIA HYPOTONIA AND MICROCEPHALY NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT ABSENT SPEECH AND DECREASED WHITE ... NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES ABSENT SPEECH AND ... NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL ... NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES SEIZURES AND SCOLIOSIS NEURODEVELOPMENTAL DISORDER WITH CATARACTS POOR GROWTH AND DYSMORPHIC FACIES NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ... NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES IMPAIRED SPEECH AND HYPOTONIA NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES SLEEP DISTURBANCE AND BRAIN ... NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM Neurodevelopmental disorder with epilepsy cataracts feeding difficulties and ... NEURODEVELOPMENTAL DISORDER WITH EPILEPSY SPASTICITY AND BRAIN ATROPHY NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR ... NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY WITH OR ... NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND ... NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND ... NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA MICROCEPHALY AND SEIZURES NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEONATAL RESPIRATORY INSUFFICIENCY ... NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA NEUROPATHY AND DEAFNESS NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA SEIZURES AND ABSENT LANGUAGE NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT HYPOTONIA ... NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ARTHROGRYPOSIS AND STRUCTURAL ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY ATAXIA AND SEIZURES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CATARACTS AND RENAL ABNORMALITIES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY CORTICAL MALFORMATIONS AND ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND BRAIN ATROPHY NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY EPILEPSY AND HYPOMYELINATION NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY HYPOTONIA AND VARIABLE BRAIN ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE AND GAIT ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY IMPAIRED LANGUAGE EPILEPSY AND ... NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND BRAIN ATROPHY NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY SEIZURES AND CORTICAL ATROPHY Neurodevelopmental disorder with midbrain and hindbrain malformations NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES ABNORMAL GAIT AND ... NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR ... NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN EYE OR HEART NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL ... Neurodevelopmental disorder with or without hyperkinetic movements and seizures ... NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES ... NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN ... NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY SPASTICITY AND BRAIN ... NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ... NEURODEVELOPMENTAL DISORDER WITH REGRESSION ABNORMAL MOVEMENTS LOSS OF SPEECH ... NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC ... NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT NEURODEVELOPMENTAL DISORDER WITH SEIZURES HYPOTONIA AND BRAIN IMAGING ... NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES ... NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA OPTIC ATROPHY SEIZURES ... NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC ... NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal to ... Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal to ... NEURODEVELOPMENTAL JAW EYE AND DIGITAL SYNDROME Neuroectodermal melanolysosomal disease Neuroendocrine tumor of stomach Neuroferritinopathy NEUROFIBROMATOSIS FAMILIAL SPINAL NEUROFIBROMATOSIS TYPE 1 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion Neurofibromatosis type 2 NEUROFIBROMATOSIS TYPE I NEUROFIBROMATOSIS TYPE II Neurofibromatosis-Noonan syndrome Neurogenic arthrogryposis multiplex congenita Neurogenic scapuloperoneal syndrome Kaeser type NEUROLOGIC ENDOCRINE AND PANCREATIC DISEASE MULTISYSTEM INFANTILE-ONSET Neurological conditions associated with aminoacylase 1 deficiency Neurological Phenotypes Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy Neurometabolic disorder due to FARS2 deficiency NEUROMUSCULAR OCULOAUDITORY SYNDROME Neuromyotonia and axonal neuropathy autosomal recessive Neuronal Ceroid Lipofuscinosis NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIA NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIB NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IIC NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IID NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE IX NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VA NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VB NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIA NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIIB NEURONOPATHY DISTAL HEREDITARY MOTOR TYPE VIII NEUROOCULOCARDIOGENITOURINARY SYNDROME NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA Neuropathy congenital hypomyelinating 1 NEUROPATHY CONGENITAL HYPOMYELINATING 1 AUTOSOMAL RECESSIVE NEUROPATHY CONGENITAL HYPOMYELINATING 2 NEUROPATHY CONGENITAL HYPOMYELINATING 3 Neuropathy hereditary motor and sensory Okinawa type NEUROPATHY HEREDITARY MOTOR AND SENSORY RUSSE TYPE NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIA WITH OPTIC ATROPHY NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIB WITH OPTIC ATROPHY NEUROPATHY HEREDITARY MOTOR AND SENSORY TYPE VIC WITH OPTIC ATROPHY NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IA Neuropathy hereditary sensory and autonomic type IC NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIA NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE IIB NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE III NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE V NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VI NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VII NEUROPATHY HEREDITARY SENSORY AND AUTONOMIC TYPE VIII Neuropathy hereditary sensory type ID NEUROPATHY HEREDITARY SENSORY TYPE IE NEUROPATHY HEREDITARY SENSORY TYPE IF Neuropathy hereditary sensory type IIC NEUROPATHY HEREDITARY SENSORY WITH SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE NEUROPATHY HEREDITARY WITH LIABILITY TO PRESSURE PALSIES NEUROPATHY HEREDITARY WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION Neuropathy with hearing impairment Neutral lipid storage disease with ichthyosis NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY Neutral lipid storage myopathy NEUTROPENIA NONIMMUNE CHRONIC IDIOPATHIC OF ADULTS NEUTROPENIA SEVERE CONGENITAL 1 AUTOSOMAL DOMINANT NEUTROPENIA SEVERE CONGENITAL 2 AUTOSOMAL DOMINANT NEUTROPENIA SEVERE CONGENITAL 3 AUTOSOMAL RECESSIVE NEUTROPENIA SEVERE CONGENITAL 4 AUTOSOMAL RECESSIVE NEUTROPENIA SEVERE CONGENITAL 5 AUTOSOMAL RECESSIVE NEUTROPENIA SEVERE CONGENITAL 6 AUTOSOMAL RECESSIVE Neutropenia severe congenital 7 autosomal recessive NEUTROPENIA SEVERE CONGENITAL 8 AUTOSOMAL DOMINANT NEUTROPENIA SEVERE CONGENITAL X-LINKED NEUTROPHIL IMMUNODEFICIENCY SYNDROME NEUTROPHILIC DERMATOSIS ACUTE FEBRILE NEVUS COMEDONICUS Nevus comedonicus syndrome NEVUS EPIDERMAL NEWFOUNDLAND ROD-CONE DYSTROPHY NICOLAIDES-BARAITSER SYNDROME Niemann-Pick disease type A Niemann-Pick disease type B NIEMANN-PICK DISEASE TYPE BNIEMANN-PICK DISEASE TYPE E INCLUDED Niemann-Pick disease type C adult neurologic onset Niemann-Pick disease type C juvenile neurologic onset Niemann-Pick disease type C late infantile neurologic onset Niemann-Pick disease type C severe early infantile neurologic onset Niemann-Pick disease type C severe perinatal form NIEMANN-PICK DISEASE TYPE C1 NIEMANN-PICK DISEASE TYPE C2 NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 1 NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 2 NIGHT BLINDNESS CONGENITAL STATIONARY AUTOSOMAL DOMINANT 3 NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1A NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1B NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1C Night blindness congenital stationary type 1D NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1E NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1F NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1G NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 1H NIGHT BLINDNESS CONGENITAL STATIONARY TYPE 2A NIGHT BLINDNESS CONGENITAL STATIONARY TYPE1I NIJMEGEN BREAKAGE SYNDROME NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER NIK deficiency NITRIC OXIDE SYNTHASE 3 NIVELON-NIVELON-MABILLE SYNDROME NIZON-ISIDOR SYNDROME NKX6-2-related autosomal recessive hypomyelinating leukodystrophy NLRC4-related familial cold autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 Nodular fasciitis Nodular urticaria pigmentosa NOG-related-symphalangism spectrum disorder NON RARE IN EUROPE: Age-related macular degeneration NON RARE IN EUROPE: Aldosterone-producing adenoma NON RARE IN EUROPE: Alzheimer disease NON RARE IN EUROPE: Ankylosing spondylitis NON RARE IN EUROPE: Asperger syndrome NON RARE IN EUROPE: Autism NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris NON RARE IN EUROPE: Barrett esophagus NON RARE IN EUROPE: Benign familial hematuria NON RARE IN EUROPE: Berger disease NON RARE IN EUROPE: Brachydactyly type D NON RARE IN EUROPE: Celiac disease NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency NON RARE IN EUROPE: Crohn disease NON RARE IN EUROPE: Dementia with Lewy body NON RARE IN EUROPE: Diabetes mellitus type 1 NON RARE IN EUROPE: Essential hypertension NON RARE IN EUROPE: Exfoliation syndrome NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia NON RARE IN EUROPE: Familial hypobetalipoproteinemia NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy NON RARE IN EUROPE: FG syndrome phenotypic spectrum NON RARE IN EUROPE: Gilbert syndrome NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency NON RARE IN EUROPE: Hemochromatosis type 1 NON RARE IN EUROPE: Hereditary essential tremor NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia NON RARE IN EUROPE: Hidradenitis suppurativa NON RARE IN EUROPE: Hyperlipoproteinemia type 4 NON RARE IN EUROPE: Hypodontia NON RARE IN EUROPE: Idiopathic infantile nystagmus NON RARE IN EUROPE: Immunoglobulin A deficiency NON RARE IN EUROPE: Infantile capillary hemangioma NON RARE IN EUROPE: Isolated keratoconus NON RARE IN EUROPE: Lactase non-persistence in adulthood NON RARE IN EUROPE: Melanoma NON RARE IN EUROPE: Metabolic syndrome NON RARE IN EUROPE: Multiple sclerosis NON RARE IN EUROPE: Non rare obesity NON RARE IN EUROPE: Non rare thrombophilia NON RARE IN EUROPE: Non-alcoholic fatty liver disease NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to ... NON RARE IN EUROPE: Obesity due to MC3R deficiency NON RARE IN EUROPE: Paget disease of bone NON RARE IN EUROPE: Parkinson disease NON RARE IN EUROPE: Partial color blindness deutan type NON RARE IN EUROPE: Partial color blindness protan type NON RARE IN EUROPE: Patent arterial duct NON RARE IN EUROPE: Primary adult open-angle glaucoma NON RARE IN EUROPE: Primary bile acid malabsorption NON RARE IN EUROPE: Primary ovarian failure NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency NON RARE IN EUROPE: Psoriatic arthritis NON RARE IN EUROPE: Recurrent acute pancreatitis NON RARE IN EUROPE: Rheumatoid arthritis NON RARE IN EUROPE: Specific language impairment NON RARE IN EUROPE: Tourette syndrome NON RARE IN EUROPE: Trimethylaminuria NON RARE IN EUROPE: Ulcerative colitis NON RARE IN EUROPE: Ventricular septal defect NON RARE IN EUROPE: Vitiligo NON RARE IN EUROPE: Wolff-Parkinson-White syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing ... Non-acquired panhypopituitarism Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-degenerative Pontocerebellar Hypoplasia Non-epidermolytic palmoplantar keratoderma Non-hereditary retinoblastoma Non-immune hydrops fetalis Non-phenylketonuria hyperphenylalaninemia Non-photosensitive trichothiodystrophy Non-progressive cerebellar ataxia with intellectual disability Non-progressive predominantly posterior cavitating leukoencephalopathy with ... Non-seminomatous germ cell tumor of testis Non-specific syndromic intellectual disability Non-syndromic craniosynostosis Non-syndromic male infertility due to sperm motility disorder NONAKA MYOPATHY NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY SUSCEPTIBILITY TO Nonpecific severe ID Nonspecific severe ID Nonspherocytic hemolytic anemia due to hexokinase deficiency Nonsyndromic autosomal-Recessive intellectual disability Nonsyndromic deafness DFNB48 NONSYNDROMIC MENTAL RETARDATION Noonan Syndrome NOONAN SYNDROME 1 NOONAN SYNDROME 10 NOONAN SYNDROME 11 NOONAN SYNDROME 12 NOONAN SYNDROME 13 NOONAN SYNDROME 3 NOONAN SYNDROME 4 NOONAN SYNDROME 5 NOONAN SYNDROME 6 NOONAN SYNDROME 7 Noonan syndrome 8 NOONAN SYNDROME 9 NOONAN SYNDROME TYPE 3 Noonan syndrome type 6 Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Noonan-like syndrome with loose anagen hair Normosmic congenital hypogonadotropic hypogonadism NORRIE DISEASE NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS NOT IN OMIM NPHP3-related Meckel-like syndrome NR4A2-related developmental disorder monoallelic NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification NSD2-related developmental disorder monoallelic NTHL1-related attenuated familial adenomatous polyposis Nuclear Envelopathy with Early Progeroid Appearance NUDT2-related Developmental Disorder Null pituitary adenoma Null syndrome NUT midline carcinoma NYSTAGMUS 1 CONGENITAL X-LINKED NYSTAGMUS 6 CONGENITAL X-LINKED OAVS/Goldenhar syndrome Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to leptin receptor gene deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to pro-opiomelanocortin deficiency Obesity due to prohormone convertase-I deficiency Obesity due to SIM1 deficiency OBESITY EARLY-ONSET WITH ADRENAL INSUFFICIENCY AND RED HAIR OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY OBESITY LEANNESS INCLUDED Obsessive-compulsive disorder OBSOLETE: Alpha-1-antichymotrypsin deficiency occipital cortical malformations Occipital encephalocele Occipital horn syndrome Occipital pachygyria and polymicrogyria OCCULT MACULAR DYSTROPHY Ochoa syndrome OCLN-associated Band-like Calcification with Simplified Gyration and ... Ocular albinism Ocular albinism with congenital sensorineural deafness Ocular anomalies-axonal neuropathy-developmental delay syndrome Ocular cystinosis Oculoauricular syndrome Oculoauricular syndrome Schorderet type Oculocerebrodental syndrome Oculocerebrofacial syndrome Kaufman type Oculocerebrorenal syndrome of Lowe Oculocutaneous Albinism Type 1 Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 OCULODENTODIGITAL DYSPLASIA OCULODENTODIGITAL DYSPLASIA AUTOSOMAL RECESSIVE Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculootodental syndrome OCULOPHARYNGEAL MUSCULAR DYSTROPHY OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 OCULOPHARYNGODISTAL MYOPATHY 1 OCULOPHARYNGODISTAL MYOPATHY 2 OCULOSKELETODENTAL SYNDROME Oculotrichoanal syndrome ODC1-related developmental disorder monoallelic ODONNELL-LURIA-RODAN SYNDROME Odonto-onycho-dermal dysplasia ODONTOCHONDRODYSPLASIA ODONTOHYPOPHOSPHATASIA Odontoleukodystrophy ODONTOONYCHODERMAL DYSPLASIA OGDEN SYNDROME OGT-related developmental disorder hemizygous OGT-related developmental disorder X-linked dominant Oguchi disease OGUCHI DISEASE 1 OGUCHI DISEASE 2 OHDO SYNDROME SBBYS VARIANT OHDO SYNDROME X-LINKED Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to a point mutation OKT4 EPITOPE DEFICIENCY OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME Oligoarticular juvenile idiopathic arthritis Oligoastrocytoma Oligodendroglioma Oligodontia Oligodontia-cancer predisposition syndrome Oligodontia-colorectal cancer syndrome OLIVER-MCFARLANE SYNDROME Ollier disease Olmsted syndrome OMENN SYNDROME OMODYSPLASIA 1 OMODYSPLASIA 2 omodysplasia type 1 (OMOD1) Ondine syndrome Oocyte maturation defect 1 Oocyte maturation defect 2 OOCYTE MATURATION DEFECT 3 OOCYTE MATURATION DEFECT 4 OOCYTE MATURATION DEFECT 5 OOCYTE MATURATION DEFECT 6 OOCYTE MATURATION DEFECT 7 OOCYTE MATURATION DEFECT 8 OOCYTE MATURATION DEFECT 9 OPHTHALMOACROMELIC SYNDROME OPHTHALMOPLEGIA EXTERNAL WITH RIB AND VERTEBRAL ANOMALIES Opitz G/BBB Syndrome X-Linked OPITZ GBBB SYNDROME TYPE I OPITZ GBBB SYNDROME TYPE II OPITZ-KAVEGGIA SYNDROME Opsismodysplasia OPTIC ATROPHY 1 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA MENTAL RETARDATION AND SEIZURES OPTIC ATROPHY 11 OPTIC ATROPHY 12 OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES OPTIC ATROPHY 3 AUTOSOMAL DOMINANT OPTIC ATROPHY 5 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY OPTIC ATROPHY 9 OPTIC ATROPHY HEARING LOSS AND PERIPHERAL NEUROPATHY AUTOSOMAL RECESSIVE OPTIC ATROPHY WITH OR WITHOUT DEAFNESS OPHTHALMOPLEGIA MYOPATHY ATAXIA AND ... Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-intellectual disability syndrome OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OPTIC NERVE HYPOPLASIA BILATERALOPTIC NERVE APLASIA BILATERAL INCLUDED ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 Oral-facial-digital syndrome with short stature and brachymesophalangy ORNITHINE TRANSCARBAMYLASE DEFICIENCY ORNITHINE TRANSCARBAMYLASE DEFICIENCY HYPERAMMONEMIA DUE TO OROFACIAL CLEFT 10 OROFACIAL CLEFT 11 Orofacial cleft 15 OROFACIAL CLEFT 5 OROFACIAL CLEFT 6 SUSCEPTIBILITY TO OROFACIAL CLEFT 8 Orofaciodigital syndrome OROFACIODIGITAL SYNDROME I OROFACIODIGITAL SYNDROME IV Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 14 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 OROFACIODIGITAL SYNDROME V OROFACIODIGITAL SYNDROME VI OROFACIODIGITAL SYNDROME XIV Orofaciodigital syndrome XV OROFACIODIGITAL SYNDROME XVI OROFACIODIGITAL SYNDROME XVII OROFACIODIGITAL SYNDROME XVIII OROTIC ACIDURIA OROTIC ACIDURIA TYPE 1 ORTHOSTATIC HYPOTENSION 1 ORTHOSTATIC HYPOTENSION 2 ORTHOSTATIC INTOLERANCE OSSEOUS HETEROPLASIA PROGRESSIVE OSTEOARTHRITIS SUSCEPTIBILITY 1 OSTEOARTHRITIS SUSCEPTIBILITY 2 OSTEOARTHRITIS SUSCEPTIBILITY 3 OSTEOARTHRITIS SUSCEPTIBILITY 5 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA OSTEOCHONDRODYSPLASIA BRACHYDACTYLY AND OVERLAPPING MALFORMED DIGITS OSTEOCHONDRODYSPLASIA COMPLEX LETHAL SYMOENS-BARNES-GISTELINCK TYPE Osteocraniostenosis Osteofibrous dysplasia OSTEOFIBROUS DYSPLASIA SUSCEPTIBILITY TO OSTEOGENESIS IMPERFECTA Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 OSTEOGENESIS IMPERFECTA TYPE I OSTEOGENESIS IMPERFECTA TYPE II OSTEOGENESIS IMPERFECTA TYPE III OSTEOGENESIS IMPERFECTA TYPE IV OSTEOGENESIS IMPERFECTA TYPE IX OSTEOGENESIS IMPERFECTA TYPE V OSTEOGENESIS IMPERFECTA TYPE VI OSTEOGENESIS IMPERFECTA TYPE VII OSTEOGENESIS IMPERFECTA TYPE VIII OSTEOGENESIS IMPERFECTA TYPE X OSTEOGENESIS IMPERFECTA TYPE XI OSTEOGENESIS IMPERFECTA TYPE XII OSTEOGENESIS IMPERFECTA TYPE XIII OSTEOGENESIS IMPERFECTA TYPE XIV OSTEOGENESIS IMPERFECTA TYPE XIX OSTEOGENESIS IMPERFECTA TYPE XV OSTEOGENESIS IMPERFECTA TYPE XVI OSTEOGENESIS IMPERFECTA TYPE XVII OSTEOGENESIS IMPERFECTA TYPE XVIII OSTEOGENESIS IMPERFECTA TYPE XX OSTEOGENIC SARCOMA OSTEOGLOPHONIC DYSPLASIA Osteoglosphonic dysplasia Osteomyelitis sterile multifocal with periostitis and pustulosis OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS Osteopathia striata-cranial sclerosis syndrome OSTEOPETROSIS AUTOSOMAL DOMINANT 1 OSTEOPETROSIS AUTOSOMAL DOMINANT 2 OSTEOPETROSIS AUTOSOMAL DOMINANT 3 Osteopetrosis autosomal dominant type 1 OSTEOPETROSIS AUTOSOMAL RECESSIVE 1 OSTEOPETROSIS AUTOSOMAL RECESSIVE 2 OSTEOPETROSIS AUTOSOMAL RECESSIVE 3 OSTEOPETROSIS AUTOSOMAL RECESSIVE 4 OSTEOPETROSIS AUTOSOMAL RECESSIVE 5 OSTEOPETROSIS AUTOSOMAL RECESSIVE 6 OSTEOPETROSIS AUTOSOMAL RECESSIVE 7 OSTEOPETROSIS AUTOSOMAL RECESSIVE 8 OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome OSTEOPOROSIS OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME OSTEOSARCOMA Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerotic metaphyseal dysplasia OTITIS MEDIA SUSCEPTIBILITY TO Otodental syndrome OTOFACIOCERVICAL SYNDROME OTOFACIOCERVICAL SYNDROME 1 OTOFACIOCERVICAL SYNDROME 2 Otopalatodigital Syndrome Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 OTOPALATODIGITAL SYNDROME TYPE I OTOPALATODIGITAL SYNDROME TYPE II Otospondylomegaepiphyseal dysplasia OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL DOMINANT OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA AUTOSOMAL RECESSIVE Otulin-related auto inflammatory syndrome OVALOCYTOSIS SOUTHEAST ASIAN OVARIAN CANCER OVARIAN CANCER EPITHELIAL INCLUDED OVARIAN DYSGENESIS 1 OVARIAN DYSGENESIS 2 OVARIAN DYSGENESIS 3 OVARIAN DYSGENESIS 4 OVARIAN DYSGENESIS 5 OVARIAN DYSGENESIS 6 OVARIAN DYSGENESIS 7 OVARIAN DYSGENESIS 8 OVARIAN HYPERSTIMULATION SYNDROME OVARIOLEUKODYSTROPHY Overgrowth-macrocephaly-facial dysmorphism syndrome Overhydrated hereditary stomatocytosis Oxoglutaric aciduria Pachydermoperiostosis PACHYGYRIA MICROCEPHALY DEVELOPMENTAL DELAY AND DYSMORPHIC FACIES WITH OR ... Pachyonychia congenita Pachyonychia congenita 1 Pachyonychia congenita 2 PACHYONYCHIA CONGENITA 3 PACHYONYCHIA CONGENITA 4 PAGANINI-MIOZZO SYNDROME PAGET DISEASE OF BONE 2 EARLY-ONSET PAGET DISEASE OF BONE 3 PAGET DISEASE OF BONE 5 JUVENILE-ONSET PAGET DISEASE OF BONE 6 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay ... PALLISTER-HALL SYNDROME PALLISTER-HALL-LIKE SYNDROME PALMOPLANTAR CARCINOMA MULTIPLE SELF-HEALING PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46XX SEX ... PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 Palmoplantar keratoderma and woolly hair PALMOPLANTAR KERATODERMA BOTHNIAN TYPE PALMOPLANTAR KERATODERMA EPIDERMOLYTIC PALMOPLANTAR KERATODERMA I STRIATE FOCAL OR DIFFUSE Palmoplantar keratoderma mutilating with periorificial keratotic plaques Palmoplantar keratoderma mutilating with periorificial keratotic plaques ... PALMOPLANTAR KERATODERMA NAGASHIMA TYPE PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 1 PALMOPLANTAR KERATODERMA NONEPIDERMOLYTIC FOCAL 2 Palmoplantar keratoderma nonepidermolytic focal or diffuse PALMOPLANTAR KERATODERMA PUNCTATE TYPE IA Palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell ... PANCREATIC AGENESIS PANCREATIC AGENESIS 1 PANCREATIC AGENESIS 2 Pancreatic agenesis diaphragmatic hernia and congenital heart defects Pancreatic agenesis-holoprosencephaly syndrome PANCREATIC AND CEREBELLAR AGENESIS Pancreatic Cancer PANCREATIC CANCER SUSCEPTIBILITY TO 1 PANCREATIC CANCER SUSCEPTIBILITY TO 2 PANCREATIC CANCER SUSCEPTIBILITY TO 3 PANCREATIC CANCER SUSCEPTIBILITY TO 4 PANCREATIC CANCER SUSCEPTIBILITY TO 5 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome PANCREATIC LIPASE DEFICIENCY PANCREATITIS HEREDITARY Pancytopenia due to IKZF1 mutations Pancytopenia-developmental delay syndrome PANHYPOPITUITARISM X-LINKED PANIC DISORDER 1 Papillary renal cell carcinoma PAPILLOMA OF CHOROID PLEXUS Papillon-Lefevre syndrome PAPILLORENAL SYNDROME PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PARAGANGLIOMAS 1 PARAGANGLIOMAS 2 Paragangliomas 3 PARAGANGLIOMAS 4 PARAGANGLIOMAS 5 PARAGANGLIOMAS 6 PARAGANGLIOMAS 7 PARAMYOTONIA CONGENITA OF VON EULENBURG PARAOXONASE 1 Parastremmatic dwarfism PARATHYROID CARCINOMA PARIETAL FORAMINA 1 PARIETAL FORAMINA 2 Parietal foramina with clavicular hypoplasia PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA Paris-Trousseau thrombocytopenia PARKES WEBER SYNDROME PARKINSON DISEASE 1 AUTOSOMAL DOMINANT PARKINSON DISEASE 11 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO PARKINSON DISEASE 13 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO PARKINSON DISEASE 14 AUTOSOMAL RECESSIVE PARKINSON DISEASE 15 AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 17 PARKINSON DISEASE 18 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO PARKINSON DISEASE 19A JUVENILE-ONSET PARKINSON DISEASE 2 AUTOSOMAL RECESSIVE JUVENILE Parkinson disease 20 early-onset PARKINSON DISEASE 22 AUTOSOMAL DOMINANT PARKINSON DISEASE 23 AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 4 AUTOSOMAL DOMINANT PARKINSON DISEASE 5 AUTOSOMAL DOMINANT SUSCEPTIBILITY TO PARKINSON DISEASE 6 AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 7 AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 8 AUTOSOMAL DOMINANT Parkinson disease 9 Parkinson disease late-onset PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY PROGRESSIVE 1 ATYPICAL INCLUDED Parkinsonian-pyramidal syndrome PARKINSONISM WITH SPASTICITY X-LINKED Parkinsonism-Dystonia Infantile PARKINSONISM-DYSTONIA INFANTILE 1 PARKINSONISM-DYSTONIA INFANTILE 2 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal exertion-induced dyskinesia PAROXYSMAL EXTREME PAIN DISORDER Paroxysmal kinesigenic dyskinesia Paroxysmal nocturnal hemoglobinuria PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 Paroxysmal non-kinesigenic dyskinesia PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY Partial androgen insensitivity syndrome Partial atrioventricular septal defect Partial chromosome Y deletion Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior ... Partial hydatidiform mole Partial pancreatic agenesis Partington syndrome PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME PATENT DUCTUS ARTERIOSUS 2 PATENT DUCTUS ARTERIOSUS 3 Paternal uniparental disomy of chromosome 6 PBX1-related developmental disorder monoallelic PCBP2-related developmental disorder monoallelic PCNA-related progressive neurodegenerative photosensitivity syndrome PDE4D haploinsufficiency syndrome Pediatric hepatocellular carcinoma Pediatric multiple sclerosis Pediatric systemic lupus erythematosus PEELING SKIN SYNDROME 1 PEELING SKIN SYNDROME 2 Peeling skin syndrome 3 PEELING SKIN SYNDROME 4 PEELING SKIN SYNDROME 5 PEELING SKIN SYNDROME 6 Peeling skin syndrome type A Peeling skin syndrome type B PEELING SKIN WITH LEUKONYCHIA ACRAL PUNCTATE KERATOSES CHEILITIS AND KNUCKLE ... Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads ... PEHO Like condition PEHO syndrome PEHO-like syndrome PELGER-HUET ANOMALY PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES PELIZAEUS-MERZBACHER DISEASE Pelizaeus-Merzbacher disease classic form Pelizaeus-Merzbacher disease connatal form Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease transitional form Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pelviscapular dysplasia PENDRED SYNDROME Pentosuria PEPSINOGEN 3 GROUP I PERCHING syndrome Perinatal lethal hypophosphatasia PERIODIC FEVER FAMILIAL AUTOSOMAL DOMINANT PERIODIC FEVER IMMUNODEFICIENCY AND THROMBOCYTOPENIA SYNDROME PERIODIC FEVER MENSTRUAL CYCLE-DEPENDENT Periodic fever-infantile enterocolitis-autoinflammatory syndrome Periodic paralysis with later-onset distal motor neuropathy Periodic paralysis with transient compartment-like syndrome Periodontal Ehlers-Danlos syndrome PERIODONTITIS AGGRESSIVE 1 PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATING LEUKODYSTROPHY AND ... PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATION WAARDENBURG SYNDROME ... Peripheral demyelinating neuropathy-central dysmyelinating disease ... PERIPHERAL NEUROPATHY AUTOSOMAL RECESSIVE WITH OR WITHOUT IMPAIRED INTELLECTUAL ... PERIPHERAL NEUROPATHY MYOPATHY HOARSENESS AND HEARING LOSS Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Peripheral primitive neuroectodermal tumor Periventricular Heterotopia Periventricular Heterotopia with Microcephaly Periventricular Heterotopia with Microcephaly autosomal recessive periventricular neuronal heterotopia Periventricular nodular heterotopia Periventricular nodular heterotopia 1 Periventricular nodular heterotopia 6 PERIVENTRICULAR NODULAR HETEROTOPIA 7 PERIVENTRICULAR NODULAR HETEROTOPIA 8 PERIVENTRICULAR NODULAR HETEROTOPIA 9 Periventricular nodular heterotopia with ID cleft palate and 2.3 toe syndactyly Perlman syndrome Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Peroxisomal fatty acyl-coa reductase 1 disorder PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) PEROXISOME BIOGENESIS DISORDER 10B PEROXISOME BIOGENESIS DISORDER 11A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 11B PEROXISOME BIOGENESIS DISORDER 12A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) PEROXISOME BIOGENESIS DISORDER 14B PEROXISOME BIOGENESIS DISORDER 1A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 1B PEROXISOME BIOGENESIS DISORDER 2A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 2B PEROXISOME BIOGENESIS DISORDER 3A ZELLWEGER Peroxisome biogenesis disorder 3B PEROXISOME BIOGENESIS DISORDER 4A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 4B PEROXISOME BIOGENESIS DISORDER 5A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 5B PEROXISOME BIOGENESIS DISORDER 6A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 6B PEROXISOME BIOGENESIS DISORDER 7A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 7B PEROXISOME BIOGENESIS DISORDER 8A ZELLWEGER PEROXISOME BIOGENESIS DISORDER 8B PEROXISOME BIOGENESIS DISORDER 9B PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 Peroxisome biogenesis disorder complementation group 3 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA Perrault syndrome PERRAULT SYNDROME 1 PERRAULT SYNDROME 2 PERRAULT SYNDROME 3 Perrault syndrome 4 PERRAULT SYNDROME 5 PERRAULT SYNDROME 6 PERRY SYNDROME Persistent hyperplastic primary vitreous Persistent hyperplastic primary vitreous autosomal recessive Persistent Hypotonia Encephalopathy Growth Retardation and Severe Intellectual ... Persistent Mullerian duct syndrome PERSISTENT MULLERIAN DUCT SYNDROME TYPES I AND II Persistent polyclonal B-cell lymphocytosis PETERS ANOMALY Peters plus syndrome PETERS-PLUS SYNDROME PETTIGREW SYNDROME Peutz-Jeghers Syndrome PFEIFFER SYNDROME Pfeiffer syndrome type 1 Pfeiffer syndrome type 2 Pfeiffer syndrome type 3 PGM1-CDG PGM3-CDG PHACTR1-associated neurodevelopment disorder Phakomatosis cesioflammea Phakomatosis cesiomarmorata Phakomatosis pigmentokeratotica Phelan-McDermid syndrome Phenocopy of Proximal 1p36 Deletions PHENYLKETONURIA Pheochromocytoma Phocomelia Schinzel type Phosphoenolpyruvate carboxykinase deficiency PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY CYTOSOLIC PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY MITOCHONDRIAL PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Phosphohydroxylysinuria PHOSPHOLIPID TRANSFER PROTEIN PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY Phosphoserine aminotransferase deficiency infantile/juvenile form PHOSPHOSERINE PHOSPHATASE DEFICIENCY PICK DISEASE OF BRAIN PIDD1-related neurodevelopmental disorder Piebald trait PIEBALDISM PIERPONT SYNDROME PIERRE ROBIN SEQUENCE PIERSON SYNDROME PIGK-associated Neurodevelopmental Syndrome Pigmentary disorder reticulate with systemic manifestations X-linked Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 1 PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 2 PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 3 PIGMENTED NODULAR ADRENOCORTICAL DISEASE PRIMARY 4 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY Pigmented paravenous retinochoroidal atrophy PILAROWSKI-BJORNSSON SYNDROME Pilomatrixoma Pilomyxoid astrocytoma PINEAL HYPERPLASIA INSULIN-RESISTANT DIABETES MELLITUS AND SOMATIC ABNORMALITIES Pitt Hopkins 2 PITT-HOPKINS SYNDROME Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome 1 Pitt-Hopkins-like syndrome 2 PITUITARY ADENOMA 1 MULTIPLE TYPES PITUITARY ADENOMA 2 GROWTH HORMONE-SECRETING PITUITARY ADENOMA 3 MULTIPLE TYPES PITUITARY ADENOMA 4 ACTH-SECRETING PITUITARY ADENOMA 5 MULTIPLE TYPES Pituitary Dwarfism II Pituitary gigantism PITUITARY HORMONE DEFICIENCY COMBINED 1 PITUITARY HORMONE DEFICIENCY COMBINED 2 PITUITARY HORMONE DEFICIENCY COMBINED 3 PITUITARY HORMONE DEFICIENCY COMBINED 4 PITUITARY HORMONE DEFICIENCY COMBINED 6 pituitary hormone deficiency combined type 3 Pituitary stalk interruption syndrome Pityriasis rubra pilaris PLAA-associated neurodevelopmental disorder Plaque-form urticaria pigmentosa PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY PLASMINOGEN DEFICIENCY TYPE I LIGNEOUS CONJUNCTIVITIS INCLUDED PLATELET DISORDER FAMILIAL WITH ASSOCIATED MYELOID MALIGNANCY PLATELET GLYCOPROTEIN IV DEFICIENCY PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY Platyspondylic dysplasia Torrance type PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE Platyspondyly with amelogenesis imperfecta PLCG2-associated antibody deficiency and immune dysregulation PLEC-related epidermolysis bullosa simplex without extracutaneous involvement Plectin-related limb-girdle muscular dystrophy R17 Pleomorphic salivary gland adenoma PLEUROPULMONARY BLASTOMA Pleuropulmonary blastoma familial tumor susceptibility syndrome PLG-related hereditary angioedema with normal C1Inh PLIN1-related familial partial lipodystrophy PMM2-CDG PMP2-related Charcot-Marie-Tooth disease type 1 PMP22-RAI1 contiguous gene duplication syndrome Pneumothorax primary spontaneous PNPLA6-related Disorder POGLUT1-related limb-girdle muscular dystrophy R21 Poikiloderma hereditary fibrosing with tendon contractures myopathy and ... POIKILODERMA WITH NEUTROPENIA POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME POLR1C-related Leukodystrophy POLR3B-related neurodevelopmental disorder POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE POLYCYSTIC KIDNEY DISEASE 5 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE POLYCYSTIC KIDNEY DISEASE AUTOSOMAL RECESSIVE Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS POLYCYTHEMIA VERA Polydactyly of a biphalangeal thumb Polydactyly of a triphalangeal thumb POLYDACTYLY POSTAXIAL TYPE A1 POLYDACTYLY POSTAXIAL TYPE A10 POLYDACTYLY POSTAXIAL TYPE A6 POLYDACTYLY POSTAXIAL TYPE A7 POLYDACTYLY POSTAXIAL TYPE A8 POLYDACTYLY POSTAXIAL TYPE A9 POLYDACTYLY PREAXIAL I POLYDACTYLY PREAXIAL II POLYDACTYLY PREAXIAL IV Polyendocrine-polyneuropathy syndrome POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY POLYGLUCOSAN BODY MYOPATHY 2 Polyglucosan body myopathy type 1 Polyglucosan body myopathy type 2 POLYGLUCOSAN BODY NEUROPATHY ADULT FORM POLYHYDRAMNIOS MEGALENCEPHALY AND SYMPTOMATIC EPILEPSY Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome Polymerase proofreading-related adenomatous polyposis Polymicrogyria POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS POLYMICROGYRIA ASYMMETRIC POLYMICROGYRIA BILATERAL FRONTOPARIETAL Polymicrogyria bilateral perisylvian autosomal recessive Polymicrogyria bilateral temporooccipital Polymicrogyria due to TUBB2B mutation POLYMICROGYRIA PERISYLVIAN WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Polyostotic fibrous dysplasia POLYPOSIS SYNDROME HEREDITARY MIXED 2 POLYSUBSTANCE ABUSE SUSCEPTIBILITY TO Polysyndactyly Polyvalvular heart disease syndrome POMGNT1-related limb-girdle muscular dystrophy R15 POMT1-related limb-girdle muscular dystrophy R11 POMT2-related limb-girdle muscular dystrophy R14 Pontine autosomal dominant microangiopathy with leukoencephalopathy Pontocerebellar hypoplasia Pontocerebellar hypoplasia and microcephaly Pontocerebellar Hypoplasia and Progressive Microcephaly PONTOCEREBELLAR HYPOPLASIA HYPOTONIA AND RESPIRATORY INSUFFICIENCY SYNDROME ... Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 10 PONTOCEREBELLAR HYPOPLASIA TYPE 11 PONTOCEREBELLAR HYPOPLASIA TYPE 12 PONTOCEREBELLAR HYPOPLASIA TYPE 13 PONTOCEREBELLAR HYPOPLASIA TYPE 1A PONTOCEREBELLAR HYPOPLASIA TYPE 1B PONTOCEREBELLAR HYPOPLASIA TYPE 1C PONTOCEREBELLAR HYPOPLASIA TYPE 1D Pontocerebellar hypoplasia type 2 Pontocerebellar Hypoplasia Type 2 and Type 4 PONTOCEREBELLAR HYPOPLASIA TYPE 2A PONTOCEREBELLAR HYPOPLASIA TYPE 2B PONTOCEREBELLAR HYPOPLASIA TYPE 2C PONTOCEREBELLAR HYPOPLASIA TYPE 2D Pontocerebellar hypoplasia type 2e PONTOCEREBELLAR HYPOPLASIA TYPE 2F Pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 9 POPLITEAL PTERYGIUM SYNDROME Popliteal pterygium syndrome lethal type PORENCEPHALY 1 Porencephaly 2 Porencephaly-microcephaly-bilateral congenital cataract syndrome Poretti-boltshauser syndrome POROKERATOSIS 1 MULTIPLE TYPES POROKERATOSIS 3 MULTIPLE TYPES Porokeratosis 7 multiple types POROKERATOSIS 8 DISSEMINATED SUPERFICIAL ACTINIC TYPE POROKERATOSIS 9 MULTIPLE TYPES Porokeratosis of Mibelli Porokeratotic eccrine ostial and dermal duct nevus PORPHYRIA ACUTE HEPATIC PORPHYRIA ACUTE INTERMITTENT PORPHYRIA CONGENITAL ERYTHROPOIETIC PORPHYRIA CUTANEA TARDA Porphyria due to ALA dehydratase deficiency PORPHYRIA VARIEGATA Portal hypertension noncirrhotic Postaxial acrofacial dysostosis Postaxial Polydactyly Type A Postaxial polydactyly type B Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Posterior Amelia with Pelvic and Pulmonary Hypoplasia POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA Posterior column ataxia-retinitis pigmentosa syndrome Posterior hypospadias Posterior polymorphous corneal dystrophy Posterior urethral valve Posterior-predominant lissencephaly-broad flat pons and medulla-midline defects ... Posteriorly predominant pachygyria and severe microcephaly Postnatal microcephaly hypomyelination and reduced cerebral white-Matter volume Postnatal microcephaly-infantile hypotonia-spastic disability syndrome ... Postsynaptic congenital myasthenic syndromes Postural orthostatic tachycardia syndrome due to NET deficiency POTOCKI-LUPSKI SYNDROME Potocki-Shaffer syndrome POU1F1-Related Combined Pituitary Hormone Deficiency PPARG-related familial partial lipodystrophy PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly PPM1D syndrome PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations PPP1R13L-related dilated cardiomyopathy PPP1R21-related neurodevelopmental disorder PRADER-WILLI SYNDROME Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to translocation PREAXIAL DEFICIENCY POSTAXIAL POLYDACTYLY AND HYPOSPADIAS PRECOCIOUS PUBERTY CENTRAL 1 Precocious puberty central 2 PRECOCIOUS PUBERTY MALE-LIMITED Precursor B-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia Predisposition to invasive fungal disease due to CARD9 deficiency Predisposition to severe viral infection due to IRF7 deficiency Preeclampsia PREECLAMPSIA/ECLAMPSIA 1 PREECLAMPSIA/ECLAMPSIA 4 PREECLAMPSIA/ECLAMPSIA 5 PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 1 PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 2 PREGNANCY LOSS RECURRENT SUSCEPTIBILITY TO 3 PREIMPLANTATION EMBRYONIC LETHALITY 1 PREIMPLANTATION EMBRYONIC LETHALITY 2 PREKALLIKREIN DEFICIENCY PREMATURE AGING SYNDROME PENTTINEN TYPE PREMATURE CHROMATID SEPARATION TRAIT PREMATURE OVARIAN FAILURE 1 Premature ovarian failure 10 Premature ovarian failure 11 Premature ovarian failure 12 PREMATURE OVARIAN FAILURE 13 PREMATURE OVARIAN FAILURE 14 PREMATURE OVARIAN FAILURE 15 PREMATURE OVARIAN FAILURE 16 PREMATURE OVARIAN FAILURE 2A PREMATURE OVARIAN FAILURE 2B PREMATURE OVARIAN FAILURE 3 Premature ovarian failure 5 PREMATURE OVARIAN FAILURE 6 Premature ovarian failure 7 Premature ovarian failure 8 Premature ovarian failure 9 PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 Prenatal benign hypophosphatasia Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Prenatal-onset spinal muscular atrophy with congenital bone fractures Presynaptic congenital myasthenic syndromes PRETERM PREMATURE RUPTURE OF THE MEMBRANES Pretibial dystrophic epidermolysis bullosa PRIM1-related Primordial Dwarfism Primary aldosteronism seizures and neurologic abnormalities Primary Autosomal Recessive Microcephaly Primary biliary cholangitis Primary CD59 deficiency PRIMARY CILARY DYSKINESIA Primary ciliary dyskineasia Primary ciliary dyskinesia Primary Ciliary Dyskinesia and Male Infertility Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein ... Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects Primary ciliary dyskinesia with central-Complex defects Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization PRIMARY CILIARY DYSKINESIA-22 Primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary ciliary dysplasia Primary cillary dyskineasia PRIMARY CONGENITAL GLAUCOMA TYPE 3A Primary cutaneous anaplastic large cell lymphoma Primary dystonia DYT2 type Primary dystonia DYT27 type Primary dystonia DYT4 type Primary dystonia DYT6 type Primary erythromelalgia PRIMARY FAILURE OF TOOTH ERUPTION Primary familial polycythemia Primary Fanconi renotubular syndrome Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Primary hypereosinophilic syndrome Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Primary hypomagnesemia with secondary hypocalcemia Primary immunodeficiency syndrome due to LAMTOR2 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal ... Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary intraosseous venous malformation Primary lateral sclerosis PRIMARY LATERAL SCLEROSIS JUVENILE Primary mediastinal large B-cell lymphoma Primary microcephaly Primary Microcephaly and Disturbed Centrosomal Function Primary microcephaly cortical malformation and epileptic encephalopathy Primary Microcephaly or macrocephaly with developmental delay Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary myelofibrosis Primary peritoneal carcinoma Primary pigmented nodular adrenocortical disease Primary sclerosing cholangitis Primordial Dwarfism PRIMORDIAL DWARFISM SECKEL SYNDROME 8 Primrose syndrome PRKACA-related Multiple Congenital Malformation Syndrome PRKACB-related Multiple Congenital Malformation Syndrome PRKAR1B-related developmental disorder PRKAR1B-related neurodegenerative dementia with intermediate filaments Progeroid and marfanoid aspect-lipodystrophy syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome PROGEROID SYNDROME Progeroid syndrome Petty type PROGESTERONE RESISTANCE Progressive autosomal recessive ataxia-deafness syndrome Progressive cerebella-cerebral atrophy type 2 Progressive cerebello-cerebral atrophy Progressive Childhood Encephalopathy and Golgi Dysfunction Progressive cone dystrophy Progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive epilepsy-intellectual disability syndrome Finnish type Progressive essential tremor-speech impairment-facial dysmorphism-intellectual ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ... Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL ... PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONSAUTOSOMAL ... Progressive external ophthalmoplegia-myopathy-emaciation syndrome PROGRESSIVE FAMILIAL HEART BLOCK TYPE IA PROGRESSIVE FAMILIAL HEART BLOCK TYPE IB Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 4 Progressive familial intrahepatic cholestasis type 5 Progressive microcephaly-seizures-cortical blindness-developmental delay ... Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy type 7 Progressive myoclonic epilepsy type 8 Progressive myoclonic epilepsy type 9 Progressive myoclonic epilepsy with dystonia Progressive neurological disorder and regression of developmental milestones Progressive non-fluent aphasia Progressive osseous heteroplasia Progressive polyneuropathy with bilateral striatal necrosis Progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid dysplasia Progressive retinal dystrophy due to retinol transport defect Progressive scapulohumeroperoneal distal myopathy Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive Spastic Ataxia and Hypomyelination PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth ... Progressive supranuclear palsy - corticobasal syndrome Progressive supranuclear palsy-parkinsonism syndrome Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Progressive symmetric erythrokeratodermia Prolactinoma PROLIDASE DEFICIENCY Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION PROP1-Related Combined Pituitary Hormone Deficiency Properdin deficiency PROPERDIN DEFICIENCY X-LINKED PROPIONIC ACIDEMIA PROPROTEIN CONVERTASE 1/3 DEFICIENCY Prostate Cancer PROSTATE CANCER HEREDITARY 1 PROSTATE CANCER HEREDITARY 12 PROSTATE CANCER HEREDITARY 13 PROSTATE CANCER HEREDITARY 2 Prostate cancer hereditary 9 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY Proteasome-associated autoinflammatory syndrome PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 PROTEIN Z DEFICIENCY PROTEINURIA CHRONIC BENIGN PROTEINURIA LOW MOLECULAR WEIGHT WITH HYPERCALCIURIA AND NEPHROCALCINOSIS Proteus syndrome Proteus-like syndrome PROTHROMBIN DEFICIENCY CONGENITAL Protoplasmic astrocytoma PROTOPORPHYRIA ERYTHROPOIETIC 1 PROTOPORPHYRIA ERYTHROPOIETIC 2 PROTOPORPHYRIA ERYTHROPOIETIC X-LINKED Proximal 16p11.2 microdeletion syndrome Proximal myopathy with extrapyramidal signs Proximal myopathy with focal depletion of mitochondria Proximal myotonic myopathy PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance Proximal symphalangism PrP systemic amyloidosis PRPF8-related developmental disorder monoallelic Prune belly syndrome PRUNE1-related neurological syndrome Pseudo von Willebrand disease PSEUDO-TORCH SYNDROME 1 PSEUDO-TORCH SYNDROME 2 PSEUDO-TORCH SYNDROME 3 PSEUDOACHONDROPLASIA PSEUDOFOLLICULITIS BARBAE PSEUDOHYPERKALEMIA FAMILIAL 2 DUE TO RED CELL LEAK Pseudohypoaldosteronism type 2B Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2E PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL DOMINANT PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL RECESSIVE PSEUDOHYPOALDOSTERONISM TYPE IIB PSEUDOHYPOALDOSTERONISM TYPE IIC PSEUDOHYPOALDOSTERONISM TYPE IID PSEUDOHYPOALDOSTERONISM TYPE IIE Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C PSEUDOHYPOPARATHYROIDISM TYPE IA PSEUDOHYPOPARATHYROIDISM TYPE IB PSEUDOHYPOPARATHYROIDISM TYPE IC Pseudohypoparathyroidism-like disorder PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS Pseudoxanthoma elasticum PSEUDOXANTHOMA ELASTICUM FORME FRUSTEPSEUDOXANTHOMA ELASTICUM HETEROZYGOUS ... Pseudoxanthoma elasticum-like disorder with multiple coagulation factor ... Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Pseudoxanthomatous diffuse cutaneous mastocytosis PSMC5-related developmental disorder monoallelic PSORIASIS 1 SUSCEPTIBILITY TO PSORIASIS 13 SUSCEPTIBILITY TO PSORIASIS 14 PUSTULAR PSORIASIS 15 PUSTULAR SUSCEPTIBILITY TO Psoriasis 2 PSORIASIS 7 SUSCEPTIBILITY TO PSORIATIC ARTHRITIS SUSCEPTIBILITY TOPSORIATIC ARTHRITIS SUSCEPTIBILITY TO 1 ... Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Psychomotor retardation epilepsy and craniofacial dysmorphism Pten Hamartoma Tumor Syndrome Pterin-4 alpha-carbinolamine dehydratase deficiency PTOSIS HEREDITARY CONGENITAL 1 PUF60 syndrome PULMONARY ALVEOLAR MICROLITHIASIS Pulmonary arterial hypertension associated with connective tissue disease Pulmonary artery and lung hypoplasia agonadism omphalocele diaphragmatic left ... Pulmonary capillary hemangiomatosis PULMONARY DISEASE CHRONIC OBSTRUCTIVE Pulmonary fibrosis and/or bone marrow failure telomere-related 1 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 3 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 4 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE TELOMERE-RELATED 5 PULMONARY FIBROSIS IDIOPATHIC PULMONARY HYPERTENSION NEONATAL SUSCEPTIBILITY TO PULMONARY HYPERTENSION PRIMARY 1 PULMONARY HYPERTENSION PRIMARY 2 PULMONARY HYPERTENSION PRIMARY 3 PULMONARY HYPERTENSION PRIMARY 4 PULMONARY VENOOCCLUSIVE DISEASE PULMONARY VENOOCCLUSIVE DISEASE 1 AUTOSOMAL DOMINANT PULMONARY VENOOCCLUSIVE DISEASE 2 AUTOSOMAL RECESSIVE Pulverulent cataract Punctate palmoplantar keratoderma type 1 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to ... Pure hair and nail ectodermal dysplasia PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Pustulosis palmaris et plantaris PYCNODYSOSTOSIS PYCR1-related DeBarsy syndrome PYCR2-related microcephaly-progressive leukoencephalopathy PYLE DISEASE Pyogenic arthritis-pyoderma gangrenosum-acne syndrome PYOGENIC STERILE ARTHRITIS PYODERMA GANGRENOSUM AND ACNE Pyridoxal phosphate-responsive seizures PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY Pyridoxine-dependent epilepsy PYROPOIKILOCYTOSIS HEREDITARY PYRUVATE CARBOXYLASE DEFICIENCY Pyruvate carboxylase deficiency benign type Pyruvate carboxylase deficiency infantile type Pyruvate carboxylase deficiency severe neonatal type PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY Pyruvate Dehydrogenase E1-Alpha Deficiency in females PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PYRUVATE DEHYDROGENASE E2 DEFICIENCY Pyruvate dehydrogenase E3 deficiency PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Pyruvate dehydrogenase phosphatase deficiency PYRUVATE KINASE DEFICIENCY OF RED CELLS QRICH1 syndrome QRICH1-related intellectual disability-chondrodysplasia syndrome QRSL1-related combined oxidative phosphorylation defect QUEBEC PLATELET DISORDER Question mark ears isolated RAB14-related developmental disorder monoallelic RABSON-MENDENHALL SYNDROME Radial hemimelia RADIN BLOOD GROUP ANTIGEN Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radiohumeral fusions with other skeletal and craniofacial anomalies RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 RAFIQ SYNDROME RAHMAN SYNDROME Raine syndrome RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 RALGAPA1-related neurodevelopmental disorder Ramon syndrome RAP1B-related developmental disorder RAPADILINO SYNDROME RAPH BLOOD GROUP SYSTEM Rapid-Onset Dystonia-Parkinsonism RAPP-HODGKIN SYNDROME Rare isolated myopia RARS-related autosomal recessive hypomyelinating leukodystrophy RARS1 related hypomyelinating leukodystrophy RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder Rasopathy with developmental delay short stature and sparse slow-growing hair RAYNAUD-CLAES SYNDROME RBFOX1-related neurodevelopmental disorder Recessive dystrophic epidermolysis bullosa generalized intermediate Recessive dystrophic epidermolysis bullosa inversa Recessive gain of function causing increased interferon signalling Recessive intellectual disability-motor dysfunction-multiple joint contractures ... Recessive mitochondrial ataxia syndrome Recessive Neurodevelopmental Syndrome Recessive Spondylocarpotarsal Synostosis Syndrome Recessive X-linked ichthyosis RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac disability ... Recurrent Neisseria infections due to factor D deficiency Reducing body myopathy REDUCING BODY MYOPATHY X-LINKED 1A SEVERE WITH INFANTILE OR EARLYCHILDHOOD ONSET REDUCING BODY MYOPATHY X-LINKED 1B WITH LATE CHILDHOOD OR ADULTONSET Refractory anemia Refractory anemia with excess blasts Refsum disease REFSUM DISEASE CLASSIC Regressive spondylometaphyseal dysplasia Reis-Bucklers corneal dystrophy RELA fusion-positive ependymoma REN-related autosomal dominant tubulointerstitial kidney disease RENAL AGENESIS Renal agenesis bilateral Renal agenesis unilateral RENAL CELL CARCINOMA NONPAPILLARY Renal cell carcinoma papillary 1 RENAL CELL CARCINOMA Xp11-ASSOCIATED Renal coloboma syndrome RENAL CYSTS AND DIABETES SYNDROME Renal dysplasia bilateral RENAL DYSPLASIA CYSTIC SUSCEPTIBILITY TO Renal dysplasia unilateral RENAL GLUCOSURIA RENAL HYPODYSPLASIA/APLASIA 1 Renal hypodysplasia/aplasia 2 RENAL HYPODYSPLASIA/APLASIA 3 Renal Hypomagnesemia Refractory Seizures and Intellectual Disability Renal hypoplasia bilateral Renal pseudohypoaldosteronism type 1 RENAL TUBULAR ACIDOSIS DISTAL 1 RENAL TUBULAR ACIDOSIS DISTAL 2 WITH PROGRESSIVE SENSORINEURAL HEARING LOSS RENAL TUBULAR ACIDOSIS DISTAL 3 WITH OR WITHOUT SENSORINEURAL HEARING LOSS RENAL TUBULAR ACIDOSIS DISTAL 4 WITH HEMOLYTIC ANEMIA Renal tubular acidosis distal AD Renal tubular acidosis distal AR RENAL TUBULAR ACIDOSIS PROXIMAL WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION RENAL TUBULAR DYSGENESIS Renal tubular dysgenesis of genetic origin Renal tubulopathy-encephalopathy-liver failure syndrome RENAL-COLOBOMA SYNDROME Renal-Hepatic ciliopathy RENAL-HEPATIC-PANCREATIC DYSPLASIA RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 Renin-angiotensin-aldosterone system-blocker-induced angioedema RENPENNING SYNDROME 1 RERE-related neurodevelopmental syndrome Resistance to thyroid hormone due to a mutation in thyroid hormone receptor ... Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Resistance to thyrotropin-releasing hormone syndrome Respiratory chain disorder RESPIRATORY PAPILLOMATOSIS JUVENILE RECURRENT CONGENITAL RESTING HEART RATE VARIATION IN Restrictive dermopathy RESTRICTIVE DERMOPATHY LETHAL RETICULAR DYSGENESIS Reticular dystrophy of the retinal pigment epithelium Reticulate acropigmentation of Kitamura RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS Retinal arterial tortuosity Retinal arteries tortuosity of RETINAL CONE DYSTROPHY 3 PDE6H RETINAL CONE DYSTROPHY 3A RETINAL CONE DYSTROPHY 3B RETINAL CONE DYSTROPHY 4 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT Retinal dystrophy and obesity Retinal dystrophy iris coloboma and comedogenic acne syndrome Retinal dystrophy juvenile cataracts and short stature syndrome RETINAL DYSTROPHY OPTIC NERVE EDEMA SPLENOMEGALY ANHIDROSIS AND MIGRAINE ... Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies RETINAL DYSTROPHY WITH LEUKODYSTROPHY RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA Retinal macular dystrophy type 2 RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC Retinal vasculopathy with cerebral leukoencephalopathy and systemic ... Retinitis pigmentosa RETINITIS PIGMENTOSA 1 RETINITIS PIGMENTOSA 10 RETINITIS PIGMENTOSA 11 RETINITIS PIGMENTOSA 12 RETINITIS PIGMENTOSA 13 RETINITIS PIGMENTOSA 14 RETINITIS PIGMENTOSA 17 RETINITIS PIGMENTOSA 18 RETINITIS PIGMENTOSA 19 RETINITIS PIGMENTOSA 2 RETINITIS PIGMENTOSA 20 RETINITIS PIGMENTOSA 23 RETINITIS PIGMENTOSA 25 RETINITIS PIGMENTOSA 26 RETINITIS PIGMENTOSA 27 Retinitis Pigmentosa 28 RETINITIS PIGMENTOSA 3 RETINITIS PIGMENTOSA 30 RETINITIS PIGMENTOSA 31 Retinitis pigmentosa 32 RETINITIS PIGMENTOSA 33 RETINITIS PIGMENTOSA 35 RETINITIS PIGMENTOSA 36 RETINITIS PIGMENTOSA 37 RETINITIS PIGMENTOSA 38 RETINITIS PIGMENTOSA 39 RETINITIS PIGMENTOSA 4 RETINITIS PIGMENTOSA 40 RETINITIS PIGMENTOSA 41 RETINITIS PIGMENTOSA 42 RETINITIS PIGMENTOSA 43 RETINITIS PIGMENTOSA 44 RETINITIS PIGMENTOSA 45 RETINITIS PIGMENTOSA 46 RETINITIS PIGMENTOSA 47 RETINITIS PIGMENTOSA 48 RETINITIS PIGMENTOSA 49 RETINITIS PIGMENTOSA 50 RETINITIS PIGMENTOSA 51 RETINITIS PIGMENTOSA 54 RETINITIS PIGMENTOSA 55 RETINITIS PIGMENTOSA 56 RETINITIS PIGMENTOSA 57 Retinitis pigmentosa 58 Retinitis pigmentosa 59 Retinitis pigmentosa 60 RETINITIS PIGMENTOSA 61 REtinitis pigmentosa 62 RETINITIS PIGMENTOSA 66 Retinitis pigmentosa 67 RETINITIS PIGMENTOSA 68 RETINITIS PIGMENTOSA 69 RETINITIS PIGMENTOSA 7 RETINITIS PIGMENTOSA 70 RETINITIS PIGMENTOSA 71 RETINITIS PIGMENTOSA 72 RETINITIS PIGMENTOSA 73 RETINITIS PIGMENTOSA 74 RETINITIS PIGMENTOSA 75 RETINITIS PIGMENTOSA 76 RETINITIS PIGMENTOSA 77 RETINITIS PIGMENTOSA 78 RETINITIS PIGMENTOSA 79 RETINITIS PIGMENTOSA 80 RETINITIS PIGMENTOSA 81 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS RETINITIS PIGMENTOSA 83 RETINITIS PIGMENTOSA 84 RETINITIS PIGMENTOSA 85 RETINITIS PIGMENTOSA 86 RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT RETINITIS PIGMENTOSA 88 RETINITIS PIGMENTOSA 89 RETINITIS PIGMENTOSA 9 RETINITIS PIGMENTOSA 90 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS Retinitis pigmentosa skeletal anomalies and intellectual disability RETINITIS PIGMENTOSA TYPE 51 RETINITIS PIGMENTOSA TYPE 55 RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES RETINITIS PIGMENTOSA X-LINKED AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT ... Retinitis pigmentosa-hearing loss-premature aging-short stature-facial syndrome ... Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability ... RETINITIS PUNCTATA ALBESCENS RETINOBLASTOMA RETINOPATHY OF PREMATURITY RETINOSCHISIS 1 X-LINKED JUVENILE Rett Syndrome Rett syndrome congenital variant RETT SYNDROME: RTT Reunion Island Larsen-like syndrome Revesz syndrome Reynolds syndrome RFT1-CDG RFVT2-related riboflavin transporter deficiency RFVT3-related riboflavin transporter deficiency Rh deficiency syndrome RH-NULL AMORPH TYPE RH-NULL REGULATOR TYPE Rhabdoid predisposition syndrome 1 RHABDOID TUMOR PREDISPOSITION SYNDROME 1 Rhabdoid tumor predisposition syndrome 2 RHABDOMYOSARCOMA 2 RHABDOMYOSARCOMA EMBRYONAL 1 Rhabdomyosarcoma embryonal 2 Rheumatoid arthritis RHEUMATOID ARTHRITIS SYSTEMIC JUVENILE Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES RHYNS syndrome RIBOFLAVIN DEFICIENCY Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and ... RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY Ribose-5-P isomerase deficiency Richieri Costa-Pereira syndrome RICHIERI-COSTA-PEREIRA SYNDROME rickets vitamin D-dependent type 2A RIDDLE syndrome RIEGER ANOMALY RIGHT ATRIAL ISOMERISM Right sided atrial isomerism RIGID SPINE MUSCULAR DYSTROPHY 1 Rigid spine syndrome RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME LETHAL NEONATAL RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease RIN2 syndrome RING DERMOID OF CORNEA RIPPLING MUSCLE DISEASE RIPPLING MUSCLE DISEASE 2 RITSCHER-SCHINZEL SYNDROME 1 Ritscher-schinzel syndrome 2 RNF13-related severe early-onset epileptic encephalopathy ROBERTS SYNDROME ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES ROBINOW SYNDROME AUTOSOMAL DOMINANT 1 ROBINOW SYNDROME AUTOSOMAL DOMINANT 2 ROBINOW SYNDROME AUTOSOMAL DOMINANT 3 ROBINOW SYNDROME AUTOSOMAL RECESSIVE 1 ROBINOW SYNDROME AUTOSOMAL RECESSIVE 2 ROBINOW-SORAUF SYNDROME ROIFMAN SYNDROME Rolandic epilepsy ROLANDIC EPILEPSY MENTAL RETARDATION AND SPEECH DYSPRAXIA X-LINKED Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Rolandic epilepsy-speech dyspraxia syndrome Romano-Ward syndrome Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson syndrome type 2 Rotor syndrome ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA Roussy-Levy syndrome RPS19-Related Diamond-Blackfan Anemia RUBINSTEIN-TAYBI SYNDROME 1 RUBINSTEIN-TAYBI SYNDROME 2 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency RUBINSTEIN-TAYBI SYNDROME TYPE 1 RUBINSTEIN-TAYBI SYNDROME TYPE 2 RUIJS-AALFS SYNDROME S-adenosylhomocysteine hydrolase deficiency Saccharopinuria Sacral agenesis with vertebral anomalies Sacral agenesis-abnormal ossification of the vertebral bodies-persistent canal ... SACRAL DEFECT WITH ANTERIOR MENINGOCELE SAETHRE-CHOTZEN SYNDROME Saldino-Mainzer syndrome SALIH MYOPATHY SALIVARY GLAND ADENOMA PLEOMORPHIC SALLA DISEASE SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME SANDESTIG-STEFANOVA SYNDROME SANDHOFF DISEASE Sandhoff disease adult form Sandhoff disease infantile form Sandhoff disease juvenile form Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Sarcoidosis SARCOIDOSIS SUSCEPTIBILITY TO 1 SARCOIDOSIS SUSCEPTIBILITY TO 2 SARCOMA SYNOVIAL SARCOSINEMIA SATB1-related developmental disorder monoallelic SATB2-associated syndrome due to a chromosomal rearrangement SATB2-associated syndrome due to a pathogenic variant SAUL-WILSON SYNDROME SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME SC PHOCOMELIA SYNDROME SCA14 SCAF4-related Neurodevelopmental Disorder Scalp-ear-nipple syndrome Scaphocephaly maxillary retrusion and mental retardation SCAPULOPERONEAL MYOPATHY MYH7-RELATED SCAPULOPERONEAL MYOPATHY X-LINKED DOMINANT SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY SCAPULOPERONEAL SYNDROME NEUROGENIC KAESER TYPE SCHAAF-YANG SYNDROME SCHEIE SYNDROME Schilbach-Rott syndrome Schimke immuno-osseous dysplasia SCHIMKE IMMUNOOSSEOUS DYSPLASIA SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME SCHINDLER DISEASE TYPE I Schinzel-Giedion midface retraction syndrome Schinzel-Giedion syndrome Schizencephaly Schizophrenia Schizophrenia 15 SCHIZOPHRENIA 18 SCHIZOPHRENIA 19 SCHIZOPHRENIA 4 SCHIZOPHRENIA 6 SCHIZOPHRENIA 9 SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA SCHNECKENBECKEN DYSPLASIA SCHNYDER CORNEAL DYSTROPHY Schopf-Schulz-Passarge syndrome Schuurs-hoeijmakers syndrome Schwannomatosis SCHWANNOMATOSIS 1 Schwannomatosis 2 Schwartz Jampel syndrome type 1 Schwartz-Jampel syndrome SCLEROSING CHOLANGITIS NEONATAL SCLEROSTEOSIS SCLEROSTEOSIS 1 SCLEROSTEOSIS 2 SCN1A-Related Seizure Disorders SCOTT SYNDROME SCUBE3-related developmental disorder SEA-BLUE HISTIOCYTE DISEASE Sea-blue histiocytosis Sebocystomatosis Seborrhea-like dermatitis with psoriasiform elements Seckel syndrome SECKEL SYNDROME 1 SECKEL SYNDROME 10 SECKEL SYNDROME 2 SECKEL SYNDROME 4 SECKEL SYNDROME 5 SECKEL SYNDROME 6 SECKEL SYNDROME 7 Seckel syndrome 8 Seckel syndrome 9 SECKEL SYNDROME TYPE 1 SEDOHEPTULOKINASE DEFICIENCY Segawa syndrome autosomal recessive Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus ... Segmental progressive overgrowth syndrome with fibroadipose hyperplasia SEIZURES BENIGN FAMILIAL INFANTILE 2 SEIZURES BENIGN FAMILIAL INFANTILE 3 SEIZURES BENIGN FAMILIAL INFANTILE 5 SEIZURES BENIGN FAMILIAL NEONATAL 1 SEIZURES BENIGN FAMILIAL NEONATAL 2 Seizures cortical blindness and microcephaly syndrome SEIZURES EARLY-ONSET WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS SEIZURES SCOLIOSIS AND MACROCEPHALY/MICROCEPHALY SYNDROME SEIZURES SENSORINEURAL DEAFNESS ATAXIA MENTAL RETARDATION AND ELECTROLYTE ... Seizures-scoliosis-macrocephaly syndrome SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE SELENON-related myopathy Self-improving collodion baby Semantic dementia Semilobar holoprosencephaly Sengers syndrome Senior-Boichis syndrome Senior-Loken syndrome SENIOR-LOKEN SYNDROME 1 SENIOR-LOKEN SYNDROME 4 SENIOR-LOKEN SYNDROME 5 SENIOR-LOKEN SYNDROME 6 SENIOR-LOKEN SYNDROME 7 SENIOR-LOKEN SYNDROME 8 Senior-Loken syndrome 9 Sensorineural deafness with dilated cardiomyopathy Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Septo-optic dysplasia spectrum SEPTOOPTIC DYSPLASIA Septopreoptic holoprosencephaly SERKAL SYNDROME SERPIN PEPTIDASE INHIBITOR CLADE A MEMBER 2 PSEUDOGENE Serrated polyposis syndrome SESSILE SERRATED POLYPOSIS CANCER SYNDROME SET syndrome SETD1B associated intellectual disability epilepsy and autism SETD2-associated Overgrowth Syndrome SETLEIS SYNDROME Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe Asphyxiating Thoracic Dysplasia Severe autosomal dominant nocturnal frontal lobe epilepsy Severe autosomal recessive macrothrombocytopenia Severe Canavan disease Severe Cobblestone Lissencephaly Severe Combined Immune Deficiency Autosomal Recessive T Cell-Negative B Cell NK ... SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B NK DUE ... SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T CELL-NEGATIVE B NK ... Severe combined immunodeficiency autosomal recessive T cell-negative B NK ... Severe combined immunodeficiency autosomal recessive T cell-negative B NK ... Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARMIL2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to FOXN1 deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LAT deficiency Severe combined immunodeficiency due to LCK deficiency SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY GROWTH RETARDATION AND TO ... SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY X-LINKED Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital nemaline myopathy Severe congenital neutropenia SEVERE CUTANEOUS ADVERSE REACTION SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS ... severe dermatitis multiple allergies and metabolic wasting Severe dermatitis-multiple allergies-metabolic wasting syndrome Severe early-childhood-onset retinal dystrophy Severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset encephalopathy with progressive microcephaly SEVERE EARLY-ONSET EPILEPSY Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy ... Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 ... Severe generalized recessive dystrophic epidermolysis bullosa Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual ... Severe Growth Retardation Spine Malformations and Developmental Delays Severe hemophilia A Severe hemophilia B Severe hereditary thrombophilia due to congenital protein C deficiency Severe hereditary thrombophilia due to congenital protein S deficiency Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal ... Severe ID with neuronal migration disorder Severe Infantile Syndromic Encephalopathy Severe Infantile-Onset Encephalopathy Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability epilepsy and cataracts Severe intellectual disability-corpus callosum agenesis-facial ataxia syndrome ... Severe intellectual disability-poor language-strabismus-grimacing face-long ... Severe intellectual disability-progressive postnatal microcephaly- midline hand ... Severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial ... Severe microcephaly and short stature Severe microcephaly short stature and intellectual disability Severe motor and intellectual disabilities-sensorineural deafness-dystonia ... Severe myopia-generalized joint laxity-short stature syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 ... Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Severe Neonatal- Childhood- or Later-Onset Cardiomyopathy Associated with ... Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Severe Neurodevelopmental Disability Hypotonia and Seizures Severe Neurodevelopmental Disease with Seizures Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand ... Severe Neurodevelopmental Syndrome Severe obesity with neurobehavioral features Severe phosphoribosylpyrophosphate synthetase superactivity Severe primary trimethylaminuria Severe pseudo-TORCH syndrome Severe syndromic form of thoracic aortic aneurysm and dissection Severe X-linked mitochondrial encephalomyopathy SEX REVERSAL TYPE 3 Sezary syndrome SHAHEEN SYNDROME SHASHI-PENA SYNDROME Sheldon-Hall syndrome SHMT2-related neurodevelopmental syndrome Short chain acyl-CoA dehydrogenase deficiency SHORT QT SYNDROME 1 SHORT QT SYNDROME 2 SHORT QT SYNDROME 3 Short rib-polydactyly syndorme type II Short rib-polydactyly syndrome Beemer-Langer type Short rib-polydactyly syndrome Majewski type Short rib-polydactyly syndrome Saldino-Noonan type Short rib-polydactyly syndrome type 5 Short rib-polydactyly syndrome Verma-Naumoff type SHORT SLEEP FAMILIAL NATURAL 1 SHORT SLEEP FAMILIAL NATURAL 2 SHORT STATURE AMELOGENESIS IMPERFECTA AND SKELETAL DYSPLASIA WITH SCOLIOSIS SHORT STATURE AND ADVANCED BONE AGE WITH OR WITHOUT EARLY-ONSETOSTEOARTHRITIS ... SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES SHORT STATURE AUDITORY CANAL ATRESIA MANDIBULAR HYPOPLASIA AND SKELETAL ... SHORT STATURE BRACHYDACTYLY IMPAIRED INTELLECTUAL DEVELOPMENT AND SEIZURES Short Stature Developmental Delay and Congenital Heart Defects Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to isolated growth hormone deficiency with X-linked ... Short stature due to partial GHR deficiency Short stature due to primary acid-labile subunit deficiency SHORT STATURE FACIAL DYSMORPHISM AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ... SHORT STATURE HEARING LOSS RETINITIS PIGMENTOSA AND DISTINCTIVE FACIES Short stature idiopathic X-linked SHORT STATURE MICROCEPHALY AND ENDOCRINE DYSFUNCTION Short stature onychodysplasia facial dysmorphism and hypotrichosis SHORT STATURE OPTIC NERVE ATROPHY AND PELGER-HUET ANOMALY Short stature palatal anomalies congenital heart disease and skeletal ... SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DEVELOPMENTAL DELAY SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES Short stature-advanced bone age-early onset osteoarthritis syndrome Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies ... Short stature-brachydactyly-obesity-global developmental delay syndrome Short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-optic atrophy-Pelger-Huet anomaly syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome SHORT syndrome Short-Rib Polydactyly SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY Short-rib thoracic dysplasia 3 with or without polydactyly Short-rib thoracic dysplasia 4 with or without polydactyly SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY Shox-related short stature Shprintzen-Goldberg craniosynostosis syndrome SHPRINTZEN-GOLDBERG SYNDROME SHUKLA-VERNON SYNDROME SHWACHMAN-DIAMOND SYNDROME SHWACHMAN-DIAMOND SYNDROME 1 SHWACHMAN-DIAMOND SYNDROME 2 SIAH1-associated neurodevelopmental disorder Sialidosis Sialidosis type 1 SIALURIA Sick sinus syndrome 1 SICK SINUS SYNDROME 2 SICK SINUS SYNDROME 3 SUSCEPTIBILITY TO SICKLE CELL ANEMIA Sickle cell-beta-thalassemia disease syndrome Sickle cell-hemoglobin C disease syndrome Sickle cell-hemoglobin D disease syndrome Sickle cell-hemoglobin E disease syndrome SIDDIQI SYNDROME SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY PERIODIC FEVERS AND DELAY ... SIFRIM-HITZ-WEISS SYNDROME Silent pituitary adenoma SILVER-RUSSELL SYNDROME 1 SILVER-RUSSELL SYNDROME 3 SILVER-RUSSELL SYNDROME 4 Silver-Russell syndrome 5 Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 SIM1-related Prader-Willi-like syndrome Simpson-Golabi-Behmel syndrome SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 1 Simpson-Golabi-Behmel syndrome type 2 SIN3A-related intellectual disability syndrome due to a point mutation Singleton-Merten dysplasia Singleton-Merten syndrome SINGLETON-MERTEN SYNDROME 1 SINGLETON-MERTEN SYNDROME 2 Sinoatrial node dysfunction and deafness Sinus Bradycardia and Cognitive Disability SITOSTEROLEMIA SITOSTEROLEMIA 1 SITOSTEROLEMIA 2 Situs ambiguus Situs inversus totalis SIX2-related frontonasal dysplasia SJOEGREN-LARSSON SYNDROME Sjogren-Larsson syndrome SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION SKELETAL DYSPLASIA MILD WITH JOINT LAXITY AND ADVANCED BONE AGE Skeletal dysplasia with severe neurological disease Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Skeletal Ewing sarcoma SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter ... SKIN CREASES CONGENITAL SYMMETRIC CIRCUMFERENTIAL 1 Skin creases congenital symmetric circumferential 2 SKIN FRAGILITY-WOOLLY HAIR SYNDROME Skin fragility-woolly hair-palmoplantar keratoderma syndrome SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 10 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 11 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 2 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 3 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 5 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 6 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 7 Skin/hair/eye pigmentation variation in 8 SKIN/HAIR/EYE PIGMENTATION VARIATION IN 9 SKRABAN-DEARDORFF SYNDROME SLC12A5-related epilepsy of infancy with migrating focal seizures SLC25A1-related Neurometabolic Disorder SLC35A1-CDG SLC35A2-CDG SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome SLC39A8-CDG SLC5A6-related Neurodevelopmental Disorder SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 SLOWED NERVE CONDUCTION VELOCITY AUTOSOMAL DOMINANT SMAD3-Related Loeys-Dietz Syndrome Small cell cancer of the lung Small cell carcinoma of the ovary Small cell lung cancer SMALL PATELLA SYNDROME SMARCA4-deficient sarcoma of thorax SMG8-related Developmental Disorder SMG9 Multiple Congenital Anomaly Syndrome Smith-Fineman-Myers syndrome SMITH-KINGSMORE SYNDROME SMITH-LEMLI-OPITZ SYNDROME SMITH-MAGENIS SYNDROME SMITH-MCCORT DYSPLASIA SMITH-MCCORT DYSPLASIA 1 SMITH-MCCORT DYSPLASIA 2 SMO-related developmental disorder SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 Smoldering systemic mastocytosis SNEDDON SYNDROME SNIJDERS BLOK-CAMPEAU SYNDROME SNIJDERS BLOK-FISHER SYNDROME SNOWFLAKE VITREORETINAL DEGENERATION SNYDER-ROBINSON SYNDROME Sodium channelopathy-related small fiber neuropathy SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 Solitary fibrous tumor/hemangiopericytoma SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SOLUBLE INTERLEUKIN-6 RECEPTOR SERUM LEVEL OF QUANTITATIVE TRAIT LOCUS SOLUTE CARRIER FAMILY 4 ANION EXCHANGER MEMBER 1 SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY SORSBY FUNDUS DYSTROPHY Sorsby pseudoinflammatory fundus dystrophy SOTOS SYNDROME SOTOS SYNDROME 1 SOTOS SYNDROME 2 SOTOS SYNDROME 3 Southeast Asian ovalocytosis SOX6-related neurodevelopmental syndrome SPAST-related developmental disorder monoallelic SPASTIC ATAXIA 1 AUTOSOMAL DOMINANT SPASTIC ATAXIA 2 AUTOSOMAL RECESSIVE SPASTIC ATAXIA 3 AUTOSOMAL RECESSIVE SPASTIC ATAXIA 4 AUTOSOMAL RECESSIVE SPASTIC ATAXIA 5 AUTOSOMAL RECESSIVE SPASTIC ATAXIA 8 AUTOSOMAL RECESSIVE WITH HYPOMYELINATING LEUKODYSTROPHY SPASTIC ATAXIA 9 AUTOSOMAL RECESSIVE SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE Spastic ataxia-dysarthria due to glutaminase deficiency SPASTIC PARALYSIS INFANTILE-ONSET ASCENDING SPASTIC PARAPLEGIA 10 AUTOSOMAL DOMINANT Spastic paraplegia 11 autosomal recessive SPASTIC PARAPLEGIA 12 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 13 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 15 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 17 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 18 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 2 X-LINKED SPASTIC PARAPLEGIA 20 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 23 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 26 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 28 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 3 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 30 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 31 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 33 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 35 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 39 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 4 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 42 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 43 AUTOSOMAL RECESSIVE Spastic paraplegia 44 SPASTIC PARAPLEGIA 44 AUTOSOMAL RECESSIVE Spastic paraplegia 45 autosomal recessive SPASTIC PARAPLEGIA 46 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 47 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 48 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 49 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 50 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 51 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 52 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 53 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 54 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 55 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 56 AUTOSOMAL RECESSIVE Spastic paraplegia 57 autosomal recessive SPASTIC PARAPLEGIA 5A AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 6 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 61 AUTOSOMAL RECESSIVE Spastic paraplegia 62 autosomal recessive Spastic paraplegia 63 autosomal recessive Spastic paraplegia 64 autosomal recessive SPASTIC PARAPLEGIA 7 AUTOSOMAL RECESSIVE Spastic paraplegia 72 autosomal recessive SPASTIC PARAPLEGIA 73 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 74 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 75 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 76 AUTOSOMAL RECESSIVE Spastic paraplegia 77 autosomal recessive SPASTIC PARAPLEGIA 78 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 79 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 8 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 80 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 81 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 82 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA 83 AUTOSOMAL RECESSIVE Spastic paraplegia 9 autosomal dominant SPASTIC PARAPLEGIA 9A AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA 9B AUTOSOMAL RECESSIVE Spastic paraplegia and psychomotor retardation with or without seizures SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 SPASTIC PARAPLEGIA INTELLECTUAL DISABILITY NYSTAGMUS AND OBESITY SPASTIC PARAPLEGIA OPTIC ATROPHY AND NEUROPATHY Spastic paraplegia type 2 Spastic paraplegia type 7 SPASTIC PARAPLEGIA X-LINKED TYPE 2 Spastic paraplegia-11 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome Spastic paraplegia-optic atrophy-neuropathy syndrome Spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA PROGRESSIVE SPASTIC TETRAPLEGIA THIN CORPUS CALLOSUM AND PROGRESSIVE MICROCEPHALY Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly ... Spasticity childhood-onset with hyperglycinemia SPECIFIC GRANULE DEFICIENCY 1 SPECIFIC GRANULE DEFICIENCY 2 SPECIFIC LANGUAGE IMPAIRMENT 5 Spectrin-associated autosomal recessive cerebellar ataxia SPEECH-LANGUAGE DISORDER 1 SPEN-related developmental disorder monoallelic SPERMATOGENIC FAILURE 1 SPERMATOGENIC FAILURE 10 SPERMATOGENIC FAILURE 11 SPERMATOGENIC FAILURE 12 Spermatogenic failure 13 Spermatogenic failure 14 Spermatogenic failure 15 SPERMATOGENIC FAILURE 16 SPERMATOGENIC FAILURE 17 SPERMATOGENIC FAILURE 18 SPERMATOGENIC FAILURE 19 SPERMATOGENIC FAILURE 20 SPERMATOGENIC FAILURE 21 SPERMATOGENIC FAILURE 22 SPERMATOGENIC FAILURE 23 SPERMATOGENIC FAILURE 24 SPERMATOGENIC FAILURE 25 SPERMATOGENIC FAILURE 26 SPERMATOGENIC FAILURE 27 SPERMATOGENIC FAILURE 28 SPERMATOGENIC FAILURE 29 Spermatogenic failure 3 SPERMATOGENIC FAILURE 30 SPERMATOGENIC FAILURE 31 SPERMATOGENIC FAILURE 32 SPERMATOGENIC FAILURE 33 SPERMATOGENIC FAILURE 34 SPERMATOGENIC FAILURE 35 SPERMATOGENIC FAILURE 36 SPERMATOGENIC FAILURE 37 SPERMATOGENIC FAILURE 38 SPERMATOGENIC FAILURE 39 SPERMATOGENIC FAILURE 4 SPERMATOGENIC FAILURE 40 SPERMATOGENIC FAILURE 41 SPERMATOGENIC FAILURE 42 SPERMATOGENIC FAILURE 43 SPERMATOGENIC FAILURE 44 SPERMATOGENIC FAILURE 45 SPERMATOGENIC FAILURE 46 SPERMATOGENIC FAILURE 47 SPERMATOGENIC FAILURE 48 SPERMATOGENIC FAILURE 5 SPERMATOGENIC FAILURE 6 SPERMATOGENIC FAILURE 7 Spermatogenic failure 8 SPERMATOGENIC FAILURE 9 SPERMATOGENIC FAILURE X-LINKED 2 SPERMATOGENIC FAILURE Y-LINKED 2 SPHEROCYTOSIS TYPE 1 SPHEROCYTOSIS TYPE 2 SPHEROCYTOSIS TYPE 3 SPHEROCYTOSIS TYPE 4 SPHEROCYTOSIS TYPE 5 Spheroid body myopathy Spinal and Bulbar Muscular Atrophy SPINAL AND BULBAR MUSCULAR ATROPHY X-LINKED 1 Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 1 SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 2 SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 4 SPINAL MUSCULAR ATROPHY DISTAL AUTOSOMAL RECESSIVE 5 Spinal muscular atrophy distal X-linked 3 SPINAL MUSCULAR ATROPHY INFANTILE JAMES TYPE Spinal muscular atrophy jokela type SPINAL MUSCULAR ATROPHY LATE-ONSET FINKEL TYPE SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 1 AUTOSOMALDOMINANT SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2A CHILDHOOD ONSET DOMINANT ... SPINAL MUSCULAR ATROPHY LOWER EXTREMITY-PREDOMINANT 2B PRENATAL ONSET AUTOSOMAL ... Spinal muscular atrophy lower extremity-predominant AD SPINAL MUSCULAR ATROPHY TYPE I SPINAL MUSCULAR ATROPHY TYPE II SPINAL MUSCULAR ATROPHY TYPE III SPINAL MUSCULAR ATROPHY TYPE IV SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 Spinal muscular atrophy with congenital bone fractures 2 SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY Spinal Muscular Atrophy with Respiratory Distress 1 Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 SPINAL MUSCULAR ATROPHY X-LINKED 2 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome SPINOCEREBELLAR ATAXIA 1 SPINOCEREBELLAR ATAXIA 10 SPINOCEREBELLAR ATAXIA 11 SPINOCEREBELLAR ATAXIA 12 SPINOCEREBELLAR ATAXIA 13 SPINOCEREBELLAR ATAXIA 14 SPINOCEREBELLAR ATAXIA 15 SPINOCEREBELLAR ATAXIA 17 Spinocerebellar ataxia 19 SPINOCEREBELLAR ATAXIA 2 SPINOCEREBELLAR ATAXIA 21 Spinocerebellar ataxia 23 SPINOCEREBELLAR ATAXIA 26 SPINOCEREBELLAR ATAXIA 27 SPINOCEREBELLAR ATAXIA 28 SPINOCEREBELLAR ATAXIA 29 Spinocerebellar ataxia 29 congenital nonprogressive SPINOCEREBELLAR ATAXIA 31 SPINOCEREBELLAR ATAXIA 34 SPINOCEREBELLAR ATAXIA 35 SPINOCEREBELLAR ATAXIA 36 SPINOCEREBELLAR ATAXIA 37 Spinocerebellar ataxia 38 SPINOCEREBELLAR ATAXIA 40 Spinocerebellar ataxia 41 Spinocerebellar ataxia 42 SPINOCEREBELLAR ATAXIA 42 EARLY-ONSET SEVERE WITH NEURODEVELOPMENTAL DEFICITS Spinocerebellar ataxia 43 SPINOCEREBELLAR ATAXIA 44 SPINOCEREBELLAR ATAXIA 45 SPINOCEREBELLAR ATAXIA 46 SPINOCEREBELLAR ATAXIA 47 SPINOCEREBELLAR ATAXIA 48 SPINOCEREBELLAR ATAXIA 5 SPINOCEREBELLAR ATAXIA 6 SPINOCEREBELLAR ATAXIA 7 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 10 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 11 Spinocerebellar ataxia autosomal recessive 12 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 13 Spinocerebellar ataxia autosomal recessive 14 Spinocerebellar ataxia autosomal recessive 15 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 16 Spinocerebellar ataxia autosomal recessive 17 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 18 Spinocerebellar ataxia autosomal recessive 2 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 21 Spinocerebellar ataxia autosomal recessive 22 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 23 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 24 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 25 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 26 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 27 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 28 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 4 Spinocerebellar ataxia autosomal recessive 7 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 8 Spinocerebellar ataxia autosomal recessive with axonal neuropathy 1 Spinocerebellar ataxia autosomal recessive with axonal neuropathy 2 SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY 3 Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 38 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 40 Spinocerebellar ataxia type 41 Spinocerebellar ataxia type 42 Spinocerebellar ataxia type 43 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar Ataxia Type15 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 SPINOCEREBELLAR ATAXIA WITH EPILEPSY SPINOCEREBELLAR ATAXIA X-LINKED 1 SPLIT HAND AND FOOT MALFORMATION Split hand-split foot-deafness syndrome SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY Split-foot malformation-mesoaxial polydactyly syndrome Split-hand/foot malformation 1 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS ... SPLIT-HAND/FOOT MALFORMATION 4 SPLIT-HAND/FOOT MALFORMATION 6 SPLIT-HAND/FOOT MALFORMATION TYPE 3 SPLIT-HAND/FOOT MALFORMATION TYPE 6 SPONASTRIME dysplasia SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA Spondylo-ocular syndrome SPONDYLOARTHROPATHY SUSCEPTIBILITY TO 1 Spondylocarpotarsal synostosis SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME SPONDYLOCOSTAL DYSOSTOSIS 1 AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS 2 AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS 3 AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS 4 AUTOSOMAL RECESSIVE Spondylocostal dysostosis 5 Spondylocostal dysostosis 6 autosomal recessive SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA BOROCHOWITZ-CORMIER-DAIRE TYPE Spondyloepimetaphyseal dysplasia congenita Strudwick type SPONDYLOEPIMETAPHYSEAL DYSPLASIA DI ROCCO TYPE Spondyloepimetaphyseal dysplasia Faden-Alkuraya type Spondyloepimetaphyseal dysplasia Genevieve type SPONDYLOEPIMETAPHYSEAL DYSPLASIA ISIDOR-TOUTAIN TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA KRAKOW TYPE Spondyloepimetaphyseal dysplasia matrilin-3 type SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE Spondyloepimetaphyseal dysplasia PAPSS2 type SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHOHAT TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA SPONASTRIME TYPE Spondyloepimetaphyseal dysplasia Strudwick type SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION Spondyloepimetaphyseal dysplasia with joint laxity SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 WITH OR WITHOUT ... SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 3 Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal Dysplasia with Severe Short Stature SPONDYLOEPIMETAPHYSEAL DYSPLASIA X-LINKED Spondyloepimetaphyseal dysplasia X-linked with hypomyelinating leukodystrophy Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Spondyloepiphyseal dysplasia Kimberley type SPONDYLOEPIPHYSEAL DYSPLASIA KONDO-FU TYPE Spondyloepiphyseal dysplasia Maroteaux type Spondyloepiphyseal dysplasia Nishimura type Spondyloepiphyseal dysplasia stanescu type SPONDYLOEPIPHYSEAL DYSPLASIA TARDA SPONDYLOEPIPHYSEAL DYSPLASIA TARDA X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Spondyloepiphyseal dysplasia with metatarsal shortening SPONDYLOMETAEPIPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE Spondylometaphyseal dysplasia 'corner fracture' type Spondylometaphyseal dysplasia axial SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE-DAGHER-MELKI TYPE Spondylometaphyseal dysplasia Schmidt type Spondylometaphyseal dysplasia Sedaghatian type Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY Spondylometaphyseal Dysplasia with Corner Fractures Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SPONDYLOOCULAR SYNDROME SPONDYLOPERIPHERAL DYSPLASIA Spondyloperipheral dysplasia-short ulna syndrome SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES SPOP-related Neurodevelopmental Disorder dominant negative SPOP-related Neurodevelopmental Disorder gain of function Sporadic fatal insomnia Sporadic pheochromocytoma/secreting paraganglioma Sporadic porphyria cutanea tarda SPTBN1-related developmental disorder monoallelic SQUALENE SYNTHASE DEFICIENCY SQUAMOUS CELL CARCINOMA HEAD AND NECK Squamous cell carcinoma of salivary glands Squamous cell carcinoma of the esophagus Squamous cell carcinoma of the hypopharynx Squamous cell carcinoma of the larynx Squamous cell carcinoma of the lip Squamous cell carcinoma of the nasal cavity and paranasal sinuses Squamous cell carcinoma of the oral cavity Squamous cell carcinoma of the oropharynx SRD5A3-CDG SRRM2-related developmental disorder monoallelic SRSF1-related developmental disorder monoallelic SSR4-CDG STAG1 syndromic intellectual disability STAG1-related intellectual disability-facial dysmorphism-gastroesophageal ... STAG2-related developmental delay with microcephaly and congenital anomalies STANKIEWICZ-ISIDOR SYNDROME Stapes ankylosis with broad thumbs and toes STAR syndrome STARGARDT DISEASE STARGARDT DISEASE 1 STARGARDT DISEASE 3 STARGARDT DISEASE 4 STAT3-related early-onset multisystem autoimmune disease STEATOCYSTOMA MULTIPLEX Steel syndrome Steinert myotonic dystrophy Sterile multifocal osteomyelitis with periostitis and pustulosis Stevens-Johnson syndrome Stickler syndrome Stickler syndrome type 1 STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR Stickler syndrome type 2 STICKLER SYNDROME TYPE 3 STICKLER SYNDROME TYPE 4 STICKLER SYNDROME TYPE I STICKLER SYNDROME TYPE I NONSYNDROMIC OCULAR STICKLER SYNDROME TYPE II STICKLER SYNDROME TYPE IV Stickler syndrome type V Stiff skin syndrome Sting-associated vasculopathy infantile-onset STING-associated vasculopathy with onset in infancy STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS Stormorken syndrome Stormorken-Sjaastad-Langslet syndrome STRIATAL DEGENERATION AUTOSOMAL DOMINANT 1 Striatal degeneration autosomal dominant 2 Striate palmoplantar keratoderma STRIATONIGRAL DEGENERATION CHILDHOOD-ONSET STRIATONIGRAL DEGENERATION INFANTILE STROKE ISCHEMIC STROMME SYNDROME STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND ... STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME STT3A-CDG STT3B-CDG Sturge-Weber syndrome Stuttering familial persistent 1 Stuve-Wiedemann syndrome Subcortical band heterotopia SUBCORTICAL BAND HETEROTOPIA X-LINKED SUBCUTANEOUS LIPODYSTROPHY DEAFNESS MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Subcutaneous panniculitis-like T-cell lymphoma Submucosal cleft palate Succinate-semialdehyde dehydrogenase deficiency SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY succinyl-CoA-3-ketoacid-CoA transferase deficiency SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY SUCRASE-ISOMALTASE DEFICIENCY CONGENITAL Sudden arrhythmic cardiac death after infectious or alcohol trigger SUDDEN CARDIAC FAILURE ALCOHOL-INDUCED SUDDEN CARDIAC FAILURE INFANTILE SUDDEN INFANT DEATH SYNDROME SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME Sudden infant death-dysgenesis of the testes syndrome SULEIMAN-EL-HATTAB SYNDROME Sulfatidosis Juvenile Austin Type Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C SULFITE OXIDASE DEFICIENCY ISOLATED Superficial epidermolytic ichthyosis SUPRANUCLEAR PALSY PROGRESSIVE 1 SUPRAVALVULAR AORTIC STENOSIS SUPT16H-related neurodevelopmental disorder SURF1-related Charcot-Marie-Tooth disease type 4 SURFACTANT METABOLISM DYSFUNCTION PULMONARY 1 SURFACTANT METABOLISM DYSFUNCTION PULMONARY 2 SURFACTANT METABOLISM DYSFUNCTION PULMONARY 3 SURFACTANT METABOLISM DYSFUNCTION PULMONARY 4 SURFACTANT METABOLISM DYSFUNCTION PULMONARY 5 SUSCEPTIBILITY TO AUTISM TYPE 16 SUSCEPTIBILITY TO AUTISM TYPE 17 SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 Susceptibility to infection due to TYK2 deficiency Susceptibility to localized juvenile periodontitis Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections due to STAT1 deficiency Sveinsson chorioretinal atrophy SWEENEY-COX SYNDROME Sweet syndrome SYMPHALANGISM PROXIMAL 1A SYMPHALANGISM PROXIMAL 1B SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA Symptomatic form of Coffin-Lowry syndrome in female carriers Symptomatic form of fragile X syndrome in female carrier Symptomatic form of hemochromatosis type 1 Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Synaptic congenital myasthenic syndromes SYNCRIP-related developmental disorder monoallelic SYNDACTYLY MESOAXIAL SYNOSTOTIC WITH PHALANGEAL REDUCTION Syndactyly type 3 Syndactyly type 4 Syndactyly type 5 Syndactyly type 8 SYNDACTYLY TYPE III SYNDACTYLY TYPE IV SYNDACTYLY TYPE V Syndactyly-telecanthus-anogenital and renal malformations syndrome Syndromic congenital heart defects Syndromic congenital sodium diarrhea Syndromic diarrhea Syndromic ID with severe microcephaly Syndromic intellectual disability Syndromic Intellectual Disability and Developmental Delay Syndromic Intellectual Disability Resembling Other PP2A Related Disorders ... Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Syndromic microphthalmia type 5 SYNDROMIC MR WITH ATAXIA DYSARTHRIA AND EPILEPSY Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic Neurodevelopmental Disorder Syndromic Neurodevelopmental Disorder with Corpus Collosum Axon Cardiac Ocular ... Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism Syndromic neutropenia with Shwachman-Diamond-like features Syndromic osteogenesis imperfecta Syndromic recessive X-linked ichthyosis Syndromic sensorineural deafness due to combined oxidative phosphorylation ... syndromic X-linked intellectual disability Syndromic X-linked intellectual disability due to JARID1C mutation SYNGAP1-related developmental and epileptic encephalopathy Synovial sarcoma SYNPOLYDACTYLY 1 SYNPOLYDACTYLY 2 SYNPOLYDACTYLY 3/3-PRIME/4 ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES Synpolydactyly type 1 Synpolydactyly type 2 Systemic lupus erythematosus SYSTEMIC LUPUS ERYTHEMATOSUS 16 SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 1 SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 10 SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 11 SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 2 SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO 9 Systemic mastocytosis with associated hematologic neoplasm Systemic primary carnitine deficiency Systemic-onset juvenile idiopathic arthritis SYT2-related congenital onset presynaptic myasthenic syndrome T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-CELL IMMUNODEFICIENCY CONGENITAL ALOPECIA AND NAIL DYSTROPHY T-cell immunodeficiency recurrent infections and autoimmunity with or without ... T-cell immunodeficiency with epidermodysplasia verruciformis T-cell large granular lymphocyte leukemia T-CELL LYMPHOMA SUBCUTANEOUS PANNICULITIS-LIKE T-CELL LYMPHOPENIA INFANTILE WITH OR WITHOUT NAIL DYSTROPHY AUTOSOMAL DOMINANT Takayasu arteritis Takenouchi-Kosaki syndrome Tall stature-intellectual disability-facial dysmorphism syndrome Tall stature-intellectual disability-renal anomalies syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome TANC2-related neurodevelopmental and psychiatric disorders TANGIER DISEASE TARP syndrome TARSAL-CARPAL COALITION SYNDROME Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY) Tatton-Brown-rahman syndrome TAY-SACHS DISEASE Tay-Sachs disease B variant adult form Tay-Sachs disease B variant infantile form Tay-Sachs disease B variant juvenile form TAY-SACHS DISEASE B1 VARIANT TBC1D2B-related neurodevelopmental disorder TBCK-related intellectual disability syndrome TCF20 syndrome TCF7L2-related developmental disorder monoallelic TCR-alpha-beta-positive T-cell deficiency TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 1 TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 2 TELANGIECTASIA HEREDITARY HEMORRHAGIC TYPE 5 Telangiectasia macularis eruptiva perstans Telethonin-related limb-girdle muscular dystrophy R7 TELO2 Syndromic Intellectual Disability Disorder TELO2-related intellectual disability-neurodevelopmental disorder Temperature-sensitive oculocutaneous albinism type 1 Temple barraister syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion TEMPLE-BARAITSER SYNDROME Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy syndrome; coloboma hypoplastic corpus callosum and intellectual ... TENORIO SYNDROME TERATOCARCINOMA-DERIVED GROWTH FACTOR 1 TERMINAL OSSEOUS DYSPLASIA Terminal osseous dysplasia-pigmentary defects syndrome Tessier number 4 facial cleft Tessier number 7 facial cleft TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE TESTICULAR GERM CELL TUMOR Testicular regression syndrome Testicular seminomatous germ cell tumor TET3 DNA Demethylation Disorder biallelic TET3 DNA Demethylation Disorder monoallelic Tetra-Amelia Syndrome Tetra-amelia with lung agenesis TETRAAMELIA SYNDROME 1 TETRAAMELIA SYNDROME 2 Tetraamelia-multiple malformations syndrome Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetralogy of Fallot TFE3-related intellectual disability with pigmentary mosaicism Thanatophoric dysplasia type 1 THANATOPHORIC DYSPLASIA TYPE 2 THANATOPHORIC DYSPLASIA TYPE I THANATOPHORIC DYSPLASIA TYPE II THAUVIN-ROBINET-FAIVRE SYNDROME THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND ... THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 EPISODIC ENCEPHALOPATHYTYPE Thiamine-responsive encephalopathy Thiamine-responsive maple syrup urine disease THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Thiel-Behnke corneal dystrophy THIOPURINES POOR METABOLISM OF 1 THIOPURINES POOR METABOLISM OF 2 THIOUREA TASTING THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Thomsen and Becker disease Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica THREE M SYNDROME 1 THREE M SYNDROME 2 Three M syndrome 3 THROMBOCYTHEMIA 1 THROMBOCYTHEMIA 2 THROMBOCYTHEMIA 3 Thrombocythemia with distal limb defects THROMBOCYTOPENIA 1 THROMBOCYTOPENIA 2 THROMBOCYTOPENIA 3 Thrombocytopenia 4 Thrombocytopenia 5 THROMBOCYTOPENIA 6 THROMBOCYTOPENIA ANEMIA AND MYELOFIBROSIS THROMBOCYTOPENIA WITH BETA-THALASSEMIA X-LINKED Thrombocytopenia with congenital dyserythropoietic anemia THROMBOCYTOPENIA X-LINKED WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Thrombomodulin-related bleeding disorder THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL DOMINANT THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY AUTOSOMAL RECESSIVE THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL DOMINANT THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY AUTOSOMAL RECESSIVE THROMBOPHILIA DUE TO THROMBIN DEFECT Thrombophilia due to thrombomodulin defect THROMBOPHILIA FAMILIAL DUE TO DECREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR THROMBOPHILIA X-LINKED DUE TO FACTOR IX DEFECT THROMBOTIC THROMBOCYTOPENIC PURPURA HEREDITARY THYROID CANCER NONMEDULLARY 1 THYROID CANCER NONMEDULLARY 2 THYROID CANCER NONMEDULLARY 4 THYROID CANCER NONMEDULLARY 5 THYROID CARCINOMA FAMILIAL MEDULLARY THYROID CARCINOMA HURTHLE CELL THYROID DYSHORMONOGENESIS 1 THYROID DYSHORMONOGENESIS 2A THYROID DYSHORMONOGENESIS 3 THYROID DYSHORMONOGENESIS 4 THYROID DYSHORMONOGENESIS 5 THYROID DYSHORMONOGENESIS 6 Thyroid ectopia THYROID HORMONE METABOLISM ABNORMAL THYROID HORMONE RESISTANCE GENERALIZED AUTOSOMAL DOMINANT THYROID HORMONE RESISTANCE GENERALIZED AUTOSOMAL RECESSIVE THYROID HORMONE RESISTANCE SELECTIVE PITUITARY Thyroid Hormonogenesis Defect I Thyroid hypoplasia THYROID-STIMULATING HORMONE RECEPTOR Thyrotoxic periodic paralysis THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 1 THYROTOXIC PERIODIC PARALYSIS SUSCEPTIBILITY TO 2 THYROTROPIN-RELEASING HORMONE DEFICIENCY THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS TIBIA HYPOPLASIA OR APLASIA OF WITH POLYDACTYLY Tibial aplasia-ectrodactyly syndrome Tibial hemimelia Tibial muscular dystrophy TIBIAL MUSCULAR DYSTROPHY TARDIVE TIETZ ALBINISM-DEAFNESS SYNDROME Tietz syndrome TIMOTHY SYNDROME Titin-related limb-girdle muscular dystrophy R10 TKFC-related Cataracts and Multisystem Disease TLK2 syndrome TMEM106B related hypomyelinating leukodystrophy TMEM165-CDG TMEM199-CDG TMEM251-related skeletal dysplasia TMEM70-related mitochondrial encephalo-cardio-myopathy TMEM94-associated congenital heart defect-facial dysmorphism-developmental ... TN POLYAGGLUTINATION SYNDROME TNP03-related limb-girdle muscular dystrophy D2 TNRC6B-related neurodevelopmental disorder TOBACCO ADDICTION SUSCEPTIBILITY TO TOE SYNDACTYLY TELECANTHUS AND ANOGENITAL AND RENAL MALFORMATIONS TOGARAM1-related ciliopathy TOLCHIN-LE CAIGNEC SYNDROME TONNE-KALSCHEUER SYNDROME Tooth agenesis TOOTH AGENESIS SELECTIVE 1 TOOTH AGENESIS SELECTIVE 3 TOOTH AGENESIS SELECTIVE 4 Tooth agenesis selective 7 TOOTH AGENESIS SELECTIVE 8 TOOTH AGENESIS SELECTIVE 9 TOOTH AGENESIS SELECTIVE X-LINKED 1 tooth agenesis selective X-linked type 1 TOR1AIP1-related limb-girdle muscular dystrophy Toriello-Carey syndrome Toriello-Lacassie-Droste syndrome Total early-onset cataract Total spina bifida aperta Total spina bifida cystica TOWNES-BROCKS SYNDROME TOWNES-BROCKS SYNDROME 1 TOWNES-BROCKS SYNDROME 2 TRANSALDOLASE DEFICIENCY Transcobalamin deficiency TRANSCOBALAMIN II DEFICIENCY TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN Transient familial neonatal hyperbilirubinemia Transient Hypomyelination during Infancy Transient infantile hypertriglyceridemia and hepatosteatosis Transient myeloproliferative syndrome Transient neonatal diabetes mellitus Transient Neonatal Hyperparathyroidism Transketolase deficiency Transposition of the great arteries dextro-looped 1 TRAPPC11-related limb-girdle muscular dystrophy R18 TREACHER COLLINS SYNDROME 1 TREACHER COLLINS SYNDROME 2 TREACHER COLLINS SYNDROME 3 TREACHER COLLINS SYNDROME 4 TREACHER COLLINS SYNDROME TYPE 1 TREACHER COLLINS SYNDROME TYPE 2 Treacher-Collins syndrome TREHALASE DEFICIENCY TREMOR HEREDITARY ESSENTIAL 1 TREMOR HEREDITARY ESSENTIAL 4 Tremor hereditary essential 5 TREMOR HEREDITARY ESSENTIAL 6 Tremor-ataxia-central hypomyelination syndrome Tricho-dento-osseous syndrome TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 TRICHODENTOOSSEOUS SYNDROME TRICHOEPITHELIOMA MULTIPLE FAMILIAL 1 Trichohepatoenteric syndrome TRICHOHEPATOENTERIC SYNDROME 1 TRICHOHEPATOENTERIC SYNDROME 2 Trichohepatoneurodevelopmental syndrome Trichomegaly Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 TRICHORHINOPHALANGEAL SYNDROME TYPE I TRICHORHINOPHALANGEAL SYNDROME TYPE III Trichothiodystrophy TRICHOTHIODYSTROPHY 1 PHOTOSENSITIVE TRICHOTHIODYSTROPHY 2 PHOTOSENSITIVE TRICHOTHIODYSTROPHY 3 PHOTOSENSITIVE TRICHOTHIODYSTROPHY 4 NONPHOTOSENSITIVE TRICHOTHIODYSTROPHY 5 NONPHOTOSENSITIVE Trichothiodystrophy 6 nonphotosensitive TRICHOTHIODYSTROPHY 7 NONPHOTOSENSITIVE trichothiodystrophy non-photosensitive type 1 TRICHOTHIODYSTROPHY PHOTOSENSITIVE Trichotillomania Triglyceride deposit cardiomyovasculopathy TRIGONOCEPHALY 1 TRIGONOCEPHALY 2 TRIM32-related limb-girdle muscular dystrophy R8 TRIM8-related neurodevelopmental disorder TRIMETHYLAMINURIA TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TRIP12-related intellectual disability with/without autism spectrum disorder TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME Triple A syndrome Trismus-pseudocamptodactyly syndrome Trisomy Xq28 TRITANOPIA tRNA isopentenyltransferase deficiency TROPICAL CALCIFIC PANCREATITIS Tropical pancreatitis TRPM3-related developmental disorder monoallelic TRUNCUS ARTERIOSIS TRUNCUS ARTERIOSUS TSH-secreting pituitary adenoma TTC12-related Primary Ciliary Dyskinesia TTC5-associated neurodevelopmental disorder Tuberculosis Tuberous sclerosis 1 Tuberous sclerosis 2 Tuberous sclerosis complex TUBEROUS SCLEROSIS TYPE 1 TUBEROUS SCLEROSIS TYPE 2 Tubular-Aggregate Myopathy Tubulinopathy-associated dysgyria Tufted angioma Tumor necrosis factor receptor 1 associated periodic syndrome TUMOR PREDISPOSITION SYNDROME TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 1 TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 2 TUMORAL CALCINOSIS HYPERPHOSPHATEMIC FAMILIAL 3 TUMORAL CALCINOSIS NORMOPHOSPHATEMIC FAMILIAL Turcot syndrome with polyposis TURNPENNY-FRY SYNDROME TWINNING DIZYGOTICOVARIAN RESPONSE TO FSH STIMULATION INCLUDED TYLOSIS WITH ESOPHAGEAL CANCER TYPE 1 DIABETES MELLITUS TYPE 1 DIABETES MELLITUS 10 TYPE 1 DIABETES MELLITUS 12 TYPE 1 DIABETES MELLITUS 2 TYPE 1 DIABETES MELLITUS 20 TYPE 1 DIABETES MELLITUS 22 TYPE 1 DIABETES MELLITUS 5 TYPE 2 DIABETES 5 TYPE 2 DIABETES MELLITUS TYPE 2 DIABETES MELLITUS 1 Typical nemaline myopathy Typical urticaria pigmentosa Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 TYROSINEMIA TYPE I TYROSINEMIA TYPE II TYROSINEMIA TYPE III U2AF2-related developmental disorder monoallelic UBE2A-Related X-Linked Syndromic Mental Retardation UGP2 Epileptic Encephalopathy ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 Ullrich congenital muscular dystrophy 2 Ulna and fibula absence of with severe limb deficiency ULNAR-MAMMARY SYNDROME UMOD-related autosomal dominant tubulointerstitial kidney disease UNC119 LIPID-BINDING CHAPERONE UNC45B-associated Progressive Myopathy with Eccentric Cores UNCOMBABLE HAIR SYNDROME UNCOMBABLE HAIR SYNDROME 1 Uncombable hair syndrome 2 UNCOMBABLE HAIR SYNDROME 3 Undetermined early-onset epileptic encephalopathy Unilateral multicystic dysplastic kidney Unspecified Neurodevelopmental Disorder Unverricht-Lundborg disease UPF1-related developmental disorder monoallelic Upper thoracic spina bifida aperta Upper thoracic spina bifida cystica URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 1 URIC ACID CONCENTRATION SERUM QUANTITATIVE TRAIT LOCUS 4 Uridine 5-prime monophosphate hydrolase deficiency hemolytic anemia due to URIDINE-CYTIDINEURIA Uridine-responsive epileptic encephalopathy UROCANASE DEFICIENCY Urocanic aciduria UROFACIAL SYNDROME UROFACIAL SYNDROME 1 UROFACIAL SYNDROME 2 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME Usher syndrome Usher syndrome type 1 USHER SYNDROME TYPE 1D USHER SYNDROME TYPE 1J USHER SYNDROME TYPE 1M Usher syndrome type 2 Usher syndrome type 3 USHER SYNDROME TYPE I USHER SYNDROME TYPE IC USHER SYNDROME TYPE ID USHER SYNDROME TYPE IF USHER SYNDROME TYPE IG USHER SYNDROME TYPE IIA USHER SYNDROME TYPE IIC USHER SYNDROME TYPE IID USHER SYNDROME TYPE IIIB USHER SYNDROME TYPE IJ USHER SYNDROME TYPE IV USP18 deficiency USP7-related developmental disorder monoallelic UV-sensitive syndrome UV-SENSITIVE SYNDROME 1 UV-SENSITIVE SYNDROME 2 UV-SENSITIVE SYNDROME 3 Uveal coloboma - cleft lip and palate - intellectual disability Uveal melanoma VACTERL Association X-Linked with or without Hydrocephalus VACTERL with hydrocephalus VACTERL/VATER association Vacuolar myopathy with sarcoplasmic reticulum protein aggregates VAN BUCHEM DISEASE Van Buchem disease type 2 Van den Ende-Gupta syndrome Van der Woude syndrome VAN DER WOUDE SYNDROME 1 VAN DER WOUDE SYNDROME 2 VAN ESCH-ODRISCOLL SYNDROME VAN MALDERGEM SYNDROME VAN MALDERGEM SYNDROME 1 Van Maldergem syndrome 2 VANIN 1 Variable Neurodevelopmental Disorder Variant ABeta2M amyloidosis VARIEGATE PORPHYRIA VAS DEFERENS CONGENITAL BILATERAL APLASIA OF VAS DEFERENS CONGENITAL BILATERAL APLASIA OF X-LINKED Vascular Ehlers-Danlos syndrome VASCULAR MALFORMATION PRIMARY INTRAOSSEOUS VASCULITIS AUTOINFLAMMATION IMMUNODEFICIENCY AND HEMATOLOGICDEFECTS SYNDROME Vasculitis due to ADA2 deficiency VASCULOPATHY RETINAL WITH CEREBRAL LEUKODYSTROPHY VCP-related developmental disorder monoallelic Vein of Galen aneurysmal malformation VELOCARDIOFACIAL SYNDROME VENOUS MALFORMATIONS MULTIPLE CUTANEOUS AND MUCOSAL VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 1 VENTRICULAR FIBRILLATION PAROXYSMAL FAMILIAL 2 VENTRICULAR SEPTAL DEFECT 1 VENTRICULAR SEPTAL DEFECT 2 VENTRICULAR SEPTAL DEFECT 3 VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 1 WITH OR WITHOUT ATRIAL ... VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 2 VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 3 VENTRICULAR TACHYCARDIA CATECHOLAMINERGIC POLYMORPHIC 4 Ventricular tachycardia catecholaminergic polymorphic 5 with or without muscle ... VENTRICULAR TACHYCARDIA FAMILIAL Ventriculomegaly with cystic kidney disease Ventriculomegaly-cystic kidney disease Verheij syndrome VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 1 VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 2 VERTEBRAL CARDIAC RENAL AND LIMB DEFECTS SYNDROME 3 VERTICAL TALUS CONGENITAL VERVERI-BRADY SYNDROME Very long chain acyl-CoA dehydrogenase deficiency Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency VESICOURETERAL REFLUX 2 VESICOURETERAL REFLUX 3 Vesicoureteral reflux 8 vesicoureteral reflux type 3 VEXAS SYNDROME VIBRATORY URTICARIA Vici syndrome Viral induced severe multiorgan dysfunction associated with impaired fission ... Visceral myopathy VISSERS-BODMER SYNDROME VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic acidemia type cblDv2 Vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut0 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1A VITAMIN D HYDROXYLATION-DEFICIENT RICKETS TYPE 1B VITAMIN D-DEPENDENT RICKETS TYPE 2A VITAMIN D-DEPENDENT RICKETS TYPE 3 VITAMIN E FAMILIAL ISOLATED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 1 VITAMIN K-DEPENDENT CLOTTING FACTORS COMBINED DEFICIENCY OF 2 Vitamin-B6-Dependent Epilepsy Vitiligo-associated multiple autoimmune disease susceptibility 1 VITREORETINAL DEGENERATION SNOWFLAKE TYPE VITREORETINOCHOROIDOPATHY VITREORETINOPATHY EXUDATIVE TYPE 4 VITREORETINOPATHY NEOVASCULAR INFLAMMATORY Vocal cord and pharyngeal distal myopathy Vogt-Koyanagi-Harada disease VOHWINKEL SYNDROME VOHWINKEL SYNDROME VARIANT FORM Von Hippel-Lindau disease VON HIPPEL-LINDAU SYNDROME von Willebrand disease type 1 VON WILLEBRAND DISEASE TYPE 2 Von Willebrand disease type 2A VON WILLEBRAND DISEASE TYPE 2B von Willebrand disease type 2M von Willebrand disease type 2N von Willebrand disease type 3 VPS11-related autosomal recessive hypomyelinating leukodystrophy VULTO-VAN SILFHOUT-DE VRIES SYNDROME WAARDENBURG SYNDROME TYPE 1 Waardenburg syndrome type 2 Waardenburg syndrome type 2A WAARDENBURG SYNDROME TYPE 2D WAARDENBURG SYNDROME TYPE 2E Waardenburg syndrome type 3 WAARDENBURG SYNDROME TYPE 4A WAARDENBURG SYNDROME TYPE 4B WAARDENBURG SYNDROME TYPE 4C Waardenburg-Shah syndrome Wagner disease WAGNER VITREORETINOPATHY WAGR syndrome WAISMAN SYNDROME Waldenstrom macroglobulinemia WALKER WARBERG SYNDROME Walker-Warburg syndrome WARBURG MICRO SYNDROME 1 WARBURG MICRO SYNDROME 2 WARBURG MICRO SYNDROME 3 Warburg micro syndrome 4 Warburg micro syndrome type 1 Warburg micro syndrome type 3 Warburg-Cinotti syndrome WARFARIN SENSITIVITY X-LINKED WARS2-related combined oxidative phosphorylation defect WARSAW BREAKAGE SYNDROME WATSON SYNDROME Weaver syndrome WEAVER SYNDROME 2 Weaver-like overgrowth syndrome WEBB-DATTANI SYNDROME Weill-Marchesani syndrome WEILL-MARCHESANI SYNDROME 1 WEILL-MARCHESANI SYNDROME 2 WEILL-MARCHESANI SYNDROME 3 WEILL-MARCHESANI SYNDROME 4 WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT WEISS-KRUSZKA SYNDROME WELANDER DISTAL MYOPATHY Well-differentiated liposarcoma Werner Syndrome WEST NILE VIRUS SUSCEPTIBILITY TO West syndrome WEYERS ACROFACIAL DYSOSTOSIS WHIM SYNDROME WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1 WHITE SPONGE NEVUS WHITE SPONGE NEVUS 1 WHITE SPONGE NEVUS 2 WHITE-SUTTON SYNDROME Wieacker-Wolff syndrome WIEACKER-WOLFF SYNDROME FEMALE-RESTRICTED WIEDEMANN-RAUTENSTRAUCH SYNDROME Wiedemann-Steiner syndrome Williams syndrome WILLIAMS-BEUREN SYNDROME WILMS TUMOR 1 WILMS TUMOR 5 Wilms tumor 6 Wilms tumor aniridia genitourinary anomalies and mental retardation syndrome WILSON DISEASE Wilson-Turner syndrome WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME Winchester syndrome WISKOTT-ALDRICH SYNDROME WISKOTT-ALDRICH SYNDROME 2 WITKOP SYNDROME Witteveen-kolk syndrome WNT5A-Related Robinow Syndrome Autosomal Dominant WNT7A- associated skeletal malformations syndrome WOLCOTT-RALLISON SYNDROME Wolf-Hirschhorn syndrome WOLFF-PARKINSON-WHITE SYNDROME Wolfram syndrome WOLFRAM SYNDROME 1 WOLFRAM SYNDROME 2 Wolfram syndrome type 2 Wolfram-like syndrome WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT WOLMAN DISEASE WOODHOUSE-SAKATI SYNDROME Woolly hair WOOLLY HAIR AUTOSOMAL DOMINANT WOOLLY HAIR AUTOSOMAL RECESSIVE 3 Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay Woolly hair nevus Woolly hair-palmoplantar keratoderma syndrome WRINKLY SKIN SYNDROME X INACTIVATION FAMILIAL SKEWED 1 X-linked adrenal hypoplasia congenita due to a NR0B1 point mutation X-linked agammaglobulinemia X-linked Alport syndrome X-linked Alport syndrome-diffuse leiomyomatosis X-linked anophthalmia syndrome X-linked central congenital hypothyroidism with late-onset testicular ... X-linked centronuclear myopathy X-linked cerebral adrenoleukodystrophy X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 6 X-linked cleft palate and ankyloglossia X-linked complicated corpus callosum dysgenesis X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital generalized hypertrichosis X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION X-LINKED CREATINE DEFICIENCY SYNDROME X-linked creatine transporter deficiency X-linked distal spinal muscular atrophy type 3 X-linked dominant chondrodysplasia Chassaing-Lacombe type X-linked dominant chondrodysplasia punctata X-linked dyserythropoietic anemia with abnormal platelets and neutropenia X-linked dystonia-parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss muscular dystrophy X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked erythropoietic protoporphyria X-linked external auditory canal atresia-dilated internal auditory canal-facial ... X-linked female restricted facial dysmorphism-short stature-choanal disability ... X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-Linked Hypophosphatemia X-LINKED HYPOSPADIAS TYPE 2 X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection ... X-linked intellectual disability Cabezas type X-linked intellectual disability Cantagrel type X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability Golabi-Ito-Hall type X-linked intellectual disability Hedera type X-linked intellectual disability Najm type X-linked intellectual disability Nascimento type X-linked intellectual disability Porteous type X-linked intellectual disability Siderius type X-linked intellectual disability Snyder type X-linked intellectual disability Stocco Dos Santos type X-linked intellectual disability Sutherland-Haan type X-linked intellectual disability Turner type X-linked intellectual disability Van Esch type X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal ... X-linked intellectual disability-Dandy-Walker malformation-basal ganglia ... X-linked intellectual disability-global development delay-facial caudal remnant ... X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive ... X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes ... X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-short stature-overweight syndrome X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ... X-linked Leigh syndrome X-linked lissencephaly with abnormal genitalia X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to XIAP deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB ... X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG ... X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked myopathy with excessive autophagy X-linked myopathy with postural muscle atrophy X-linked myotubular myopathy-abnormal genitalia syndrome X-linked non progressive cerebellar ataxia X-linked non-syndromic intellectual disability X-linked nonsyndromic sensorineural deafness type DFN X-linked Opitz G/BBB syndrome X-linked osteoporosis with fractures X-linked parkinsonism-spasticity syndrome X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects X-linked progressive cerebellar ataxia X-linked recessive ocular albinism X-linked reticulate pigmentary disorder X-linked retinoschisis X-linked scapuloperoneal muscular dystrophy X-linked severe congenital neutropenia X-linked sideroblastic anemia X-linked sideroblastic anemia and spinocerebellar ataxia X-linked spasticity-intellectual disability-epilepsy syndrome X-Linked Spondyloepimetaphyseal Dysplasia X-linked thrombocytopenia with normal platelets X-LINKED TRICHOTHIODYSTROPHY Xanthinuria type I Xanthinuria type II Xeroderma pigmentosum XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G Xeroderma pigmentosum group A Xeroderma pigmentosum group C XERODERMA PIGMENTOSUM GROUP E DDB-NEGATIVE SUBTYPE Xeroderma pigmentosum variant XERODERMA PIGMENTOSUM VARIANT TYPE Xeroderma pigmentosum-Cockayne syndrome complex XFE PROGEROID SYNDROME Xia-Gibbs syndrome XL Intellectual disability Xq21 microdeletion syndrome Xq25 microduplication syndrome Xq27.3q28 duplication syndrome XYLT1-CDG YAO SYNDROME YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME YOU-HOOVER-FONG SYNDROME Young adult-onset distal hereditary motor neuropathy Young-onset Parkinson disease YT BLOOD GROUP ANTIGEN YUNIS-VARON SYNDROME ZBTB18 syndrome ZBTB7A-associated developmental disorder Zebra body myopathy Zellweger Syndrome ZFHX3-related developmental disorder monoallelic ZFHX4-related developmental disorder monoallelic ZFPM2-associated malformation syndrome Zimmermann-Laband syndrome ZIMMERMANN-LABAND SYNDROME 1 ZIMMERMANN-LABAND SYNDROME 2 ZIMMERMANN-LABAND SYNDROME 3 ZINC DEFICIENCY TRANSIENT NEONATAL ZINC FINGER PROTEIN 106 ZMYM2-related developmental disorder monoallelic ZNF148-related developmental disorder monoallelic ZNF292-related developmental disorder monoallelic ZNF407-related Neurodevelopmental Disorder ZTTK SYNDROME ZUNICH NEUROECTODERMAL SYNDROME Zygodactyly type 3